History Of Polycystic Kidney Disease Research Articles

Case Report: The tree that hides the forest, a case of renal ANCA vasculitis concurrent with Fabry nephropathy.

This case report presents a complex case of a 65-year-old female with a history of hypertension and a family history of polycystic kidney disease and Fabry disease presented with acute pancreatitis and subsequent renal insufficiency. Despite initial corticosteroid therapy for immuno-allergic nephropathy, the patient’s condition deteriorated with the development of a skin rash, uremic syndrome, and neurological symptoms. A renal biopsy revealed cellular crescents and cytoplasmic vacuolization in podocytes and tubular cells. Genetic testing confirmed a GLA gene mutation, consistent with Fabry disease. While undergoing treatment with cyclophosphamide, the patient experienced severe allergic reactions, ultimately leading to acute respiratory distress syndrome and fatal outcome. Despite the Fabry disease variant being primarily associated with cardiac involvement, renal involvement was evident. This case highlights the rarity of this co-occurrence, the diagnostic challenges, the importance of genetic factors in autoimmune kidney diseases, and the impact of drug allergies on patient management.

6441 Hyperthyroidism in a patient with Lyme disease

Abstract Disclosure: J. Epstein: None. C. Berman: None. Background: Lyme disease is known to cause inflammation in many organs. There are few case reports in the literature that discuss the association between Lyme disease and thyroiditis. This case underscores the need to further research the association between Lyme disease and thyroid physiology. Clinical Case: A 15-year-old female with a history of polycystic kidney disease is referred to a pediatric endocrinologist for primary amenorrhea and hyperthyroidism. Initial thyroid function tests demonstrated suppressed TSH of 0.03 mIU/L with an elevated free T4 level of 4.0 ng/dL and total T3 of 437 ng/dL. The patient was asymptomatic with normal vital signs, and physical exam was normal without goiter, tremor, tongue fasciculations, or exophthalmos. Thyroid ultrasound demonstrated a mildly heterogenous appearance without nodules. Incidentally, Lyme disease was concurrently diagnosed based on a positive screen confirmed with immunoblot. There was no known tick exposure or rash, but the patient had recently spent time outdoors in upstate New York. Doxycycline was started for the treatment of Lyme disease and repeat thyroid tests one week later showed a decrease in free T4 and total T3 levels, although still elevated. Thyroid antibodies including thyroid peroxidase (TPO), thyroglobulin and thyroid-stimulating immunoglobulin (TSI) were negative. After finishing doxycycline treatment, she developed a hypothyroid state with a TSH of 6.39 mIU/L, free T4 of 0.6 ng/dL, and a normal total T3 of 148 ng/dL. Free T4 has since normalized however TSH remains elevated. The patient continues to be monitored closely without pharmacologic treatment. The evolution of this patient’s thyroid function is consistent with thyroiditis and appears similar to the course of Hashitoxicosis, however antibodies remain negative. There is literature that suggests molecular mimicry between Borrelia proteins and thyroid autoantigens due to amino acid sequence homology. Some Borrelial proteins are found to share antigenic properties with multiple thyroid related proteins, specifically the TSH receptor, TPO, thyroglobulin and sodium iodine symporter, potentially leading to thyroiditis. Three case reports describe adults with hyperthyroidism in the setting of Lyme disease, however in these cases thyroid antibodies (TPO +/- thyroglobulin) were positive. Two of these patients were asymptomatic, similar to our patient. This phenomenon has never been described in a pediatric patient and illustrates the need to consider Lyme disease as a potential cause of destructive, transient, thyroiditis. Presentation: 6/1/2024

6424 From Hyperparathyroidism To Neurologic Crisis: A Tale Of Brown Tumor And Spinal Cord Compression

Abstract Disclosure: A. Kormanis: None. M. Anderson: None. M. McKnight: None. H. Darapu: None. Background/Objective: In this case, we present a rare and severe consequence of secondary hyperparathyroidism, a Brown tumor leading to spinal cord compression, in a young adult with end-stage renal disease. Case Report: A 26-year-old male with a medical history of polycystic kidney disease and IgA Nephropathy complicated by ESRD, history of brown cell tumors (s/p surgery) was admitted for hospitalization due to hypocalcemia after presenting to the Emergency Department with right lower extremity weakness. Examination revealed right hip flexor weakness and right foot clonus. Lab results showed serum calcium of 10.4 mg/dL . MRI displayed a 2.5cm X 3.7 cm soft tissue mass with circumferential encroachment of the epidural space leading to severe spinal canal stenosis of T4-T5 at the site of prior Brown tumor resection. Ultimately, the patient underwent subtotal parathyroidectomy with left cervical thymectomy, leading to an intra-operative PTH drop from >3500 to 247 pg/mL. Discussion: In the context of treating vertebral brown tumors, the consensus suggests that parathyroidectomy plays a crucial role in achieving both clinical and radiographical amelioration of the tumor. However, in cases like ours where paresis is present, surgical decompression of the tumor becomes imperative. Conclusion: The development of Brown tumors is a severe and rare long-term complication for hyperparathyroidism, and the location of a Brown tumor in the thoracic spine causing symptomatic cord compression is even more rare. Presentation: 6/2/2024

#6475 AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE WITH COMPLETE SITUS INVERSUS: A CASE REPORT

Abstract Background and Aims Association between complete Situs inversus and autosomal polycystic kidney disease is rare. The Medline search revealed only three such cases. We report the fourth one. Recent studies have revealed ciliary dysfunction as a cause of both conditions. Method we report a case of association of familial hereditary polycystic kidney disease with a situs inversus. Results A 32-year-old patient with a familial history of polycystic kidney disease and stroke was admitted to Nephrology for severe renal failure with hypertension. On examination, the patient had a blood pressure of 160/100mmHg. The abdomen was soft, with bilateral palpable renal masses with irregular surfaces. Neurological examination was without abnormalities. The blood test showed creatinemia at 829µmol/L, urea at 44mmol/L, correct ionogram, CO2 at 19 mmol/L, calcemia at 1.98mmol/L and uric acid at 860 µmol/L. The 24-hour proteinuria was 1.5g. The cytobacteriological examination of the urine was negative. The chest X-ray showed a situs inversus of the heart. On abdominal ultrasound, the kidneys were polycystic, the liver was seen on left and the spleen on the right. The patient was put on antihypertensive treatment with a calcium channel blocker and Purinol. Given the clinical and biological improvement, the patient was discharged with close monitoring at the outpatient clinic with possible preparation for hemodialysis. In addition, a cerebral MRI angiography was requested to detect cerebral damage because of the family history of stroke. Conclusion Polycystic kidney disease is caused by mutations in the polycystic kidney and hepatic disease 1 (PKHD1) gene. Several proteins that are encoded by genes associated with polycystic kidney disease have been identified in primary cilia in renal tubular epithelia. These findings have suggested that abnormalities in cilia formation and function may play a role in the pathogenesis of PKD. Treatment options for PKD are still being explored but further research can develop solutions to increase the life expectancy of patients diagnosed with PKD. Cases like this are rare but could provide more information on the causes of PKD and Situs Inversus leading to these new solutions.

Autosomal Dominant Polycystic Kidney Disease: An Unknown Disease in Chad

Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic renal disease. After about ten years of evolution, it leads to a slow and progressive loss of kidney function eventually causing renal insufficiency and kidney failure. Few data exist on this pathology in Africa and Chad. The objective of this study was to analyze the epidemiological, diagnostic and therapeutic aspects of ADPKD. Methodology: This was a multicenter cross-sectional, descriptive and analytical study conducted over a period of 34 months in two hospitals in N’Djamena, Chad. All patients aged 15 years and above, having a family history of polycystic kidney disease, which were hospitalized or who were coming for consultation that met the unified criteria for ultrasonographic diagnoses (Ravine criteria modified by Pei) of ADPKD were included in the study. The clinical, paraclinical, therapeutic and evolutionary criteria for these patients had been studied. Results: There were a total of 26 cases of polycystic kidney disease that had a hospital prevalence of 1.16%. The average age was 42.4 years with extremes ranging from 15-70 years and a sex ratio of 1.3. The family survey had shown that parental consanguinity was present in 34.6% (n=9). The prevalence of hypertension was 53.8% (n=14). The mean serum creatinine was 45 mg/l with extremes ranging from 4.5 to 274.42 mg/l. It was noted that 65.3% (n=17) had chronic kidney disease with a GFR >30 mL/min/1.73m2 . During diagnosis 26.9% (n=7) had end-stage renal disease (ESRD), while 2 patients progressed to ESRD two years after diagnosis. One patient was hospitalized for chronic hemodialysis. No patient had received a kidney transplant and no patient had undergone a molecular biology and genetics study or had been treated with Tolvaptan. Conclusion: In Chad, the hospital prevalence of ADPKD was 1.16%, affecting young adults (average age of 42.4 years) with a male predominance. Management is usually late and remains limited to symptomatic treatment with complications such as chronic renal failure. Abbreviations: ADPKD: Autosomal Dominant Polycystic Kidney Disease, CRF: Chronic Renal Failure, ESRD: End-Stage Renal Disease, CVA: Cerebro Vascular Accident

A case of Brucella pyelonephritis: a rare case

Brucellosis is a zoonotic disease, seen globally, especially in developing countries and it can affect many organs. Urinary involvement of this disease is a very rare. Pyelonephritis, interstitial nephritis, glomerulonephritis, nephropathy are the reported urinary involvements. In this study, we aimed to report a case of Brucella pyelonephritis, who had complaints mimicking acute bacterial pyelonephritis, with a history of polycystic kidney disease and calculi in the left kidney.

P1232COMPUTED TOMOGRAPHIC PERITONEOGRAPHY - GUARANTYING SAFER SURGICAL STRATEGIES

Abstract Background and Aims Peritoneal Dialysis (PD) is currently the first option as renal replacement therapy to many patients, for several reasons, as personal flexibility, volemic management in cardiorenal patients, poor vascular access to dialysis, among others. Mechanical complications can be a drawback in these patients, which may occur during or after catheter placement. Abdominal wall hernias and dialysate leaks are relatively common and highly related to chronically increased intraperitoneal pressure. In this setting CT peritoneography is the technique of choice as it allows differentiation between a true hernia or a wall leakage. Method We describe a case of a 69-year-old man, with a personal history of polycystic kidney disease, colonic diverticulosis and hypertension, which opted for PD. The patient later developed a mechanical complication for which a proper diagnostic approach, namely through specific imaging, and surgical planning were essential. Results After 15 months without complications, it was detected a bulging in the periumbilical area, exacerbated by orthostatism. Changes in dialytic prescription included lower dialytic volumes during orthostatic period, with some improvements. The limitation of volumes and difficulty of drainage were limiting dialytic prescription and insufficient kt/V. An ultrasound (figure 1) and CT peritoneography (figure 2) were performed, revealing an hernial sac with peritoneal liquid leak, without any intestinal loop, approachable by minimally invasive surgery and local anesthesia. Mini-laparotomy was performed, hernial sac was removed, without peritoneum aperture, with only a 4-day pause on PD technique. Conclusion CT peritoneography allowed the differentiation between this true hernia and a wall leakage, by providing accurate anatomical detail, allowing proper planning of surgical intervention. In this case, the patient had additional predisposing factors, namely polycystic kidney disease. Moreover, only a short pause on PD was necessary. Although some limitations exist, such as the use of iodinated contrast material and ionizating radiations, CT peritoneography is currently the gold standard for the evaluation of mechanical complications in PD; in addition to those mentioned, it is also useful for complications related to the catheter (kinking, entrapment, malposition), intrabdominal adhesions or loculated fluid collections.

Aspirin associated with decreased rate of intracranial aneurysm growth.

Aspirin has emerged as a potential agent in the prevention of rupture of intracranial aneurysms (IAs). In this study, the authors' goal was to test if aspirin is protective against aneurysm growth in patients harboring multiple IAs ≤ 5 mm. The authors performed a retrospective review of a prospectively maintained database covering the period July 2009 through January 2019. Patients' data were included if the following criteria were met: 1) the patient harbored multiple IAs; 2) designated primary aneurysms were treated by surgical/endovascular means; 3) the remaining aneurysms were observed for growth; and 4) a follow-up period of at least 5 years after the initial treatment was available. Demographics, earlier medical history, the rupture status of designated primary aneurysms, aneurysms' angiographic features, and treatment modalities were gathered. The authors identified 146 patients harboring a total of 375 IAs. At the initial encounter, 146 aneurysms were treated and the remaining 229 aneurysms (2-5 mm) were observed. During the follow-up period, 24 (10.48%) of 229 aneurysms grew. All aneurysms observed to grow later underwent treatment. None of the observed aneurysms ruptured. Multivariate analysis showed that aspirin was significantly associated with a decreased rate of growth (odds ratio [OR] 0.19, 95% confidence interval [CI] 0.05-0.63). Variables associated with an increased rate of growth included hypertension (OR 14.38, 95% CI 3.83-53.94), drug abuse (OR 11.26, 95% CI 1.21-104.65), history of polycystic kidney disease (OR 9.48, 95% CI 1.51-59.35), and subarachnoid hemorrhage at presentation (OR 5.91, 95% CI 1.83-19.09). In patients with multiple IAs, aspirin significantly decreased the rate of aneurysm growth over time. Additional prospective interventional studies are needed to validate these findings.

Presentation and Clinical Characteristics of Patients with Maturity Onset Diabetes of the Young (MODY) at Women and Children’s Hospital of Buffalo

Background: Maturity onset diabetes of the young (MODY) is a monogenic form of diabetes. It is rare, representing the final diagnosis in 1-2% of individuals with diabetes. In the pediatric cohort, it can be confused with type 1 diabetes. Clinical diagnosis is suspected in the case of hyperglycemia, lack of autoantibodies, and autosomal dominant transmission. This retrospective chart review evaluated the clinical presentation and characteristics of patients diagnosed with MODY by our practice with a goal of identifying patients that can be candidates for genetic testing. Methods: Using ICD10 codes for MODY, we performed a retrospective chart review of patients carrying MODY diagnosis confirmed by genetic testing, who received their care at the Diabetes Center at Women and Children’s Hospital of Buffalo. Results: We identified 10 subjects with confirmed genetic testing for MODY. Median age of presentation with hyperglycemia was 13.1 years (range of 3.6-17.3 years). Median HbA1c at presentation was 6.3% (range 6%-14%). While the initial referring diagnosis was elevated fasting BS (FBS) in 50% of subjects, FBS (mean 120±21 mg/dL) was abnormal for all but 1 subject at their first contact visit. All subjects had negative pancreatic autoantibodies. In our cohort, confirmatory testing was as follows: MODY2 (n = 6), MODY3 (n = 2), MODY 4 (n=1), and MODY5 (n=1). Three subjects were assigned a MODY diagnosis prior to genetic testing. Two were siblings with family history of maternal MODY2. The third subject had a history of polycystic kidney disease, septate uterus, and HbA1C in the prediabetes range. This subject was assigned a presumptive diagnosis of MODY 5 prior to genetic test. Conclusion: In our practice, all subjects with confirmed MODY diagnosis had negative pancreatic autoantibodies with most meeting criteria for prediabetes diagnosis. Clinicians should have a high index of suspicion for MODY in subjects who do not fit criteria for T1DM or T2DM. Disclosure L. Saadeh: None. L.D. Mastrandrea: Research Support; Self; Novo Nordisk Inc., AstraZeneca, Sanofi-Aventis. Advisory Panel; Self; Pediatric Diabetes Consortium. Other Relationship; Self; American Academy of Pediatrics. Advisory Panel; Self; JAEB Center For Health Research.

A case report of an angiomyxoma in the liver

Angiomyxomas are uncommon myxoid tumours arising most commonly from the pelvis. A 46-year-old woman with a history of polycystic kidney disease presented asymptomatically for surveillance ultrasonography; changes were noted in the size and morphology of her liver cysts. Subsequent radiological assessment displayed features suspicious of malignancy and a right hemihepatectomy was performed with curative intent. Pathological examination of the resected specimen found histology consistent with an angiomyxoma arising primarily from the liver parenchyma. Follow-up review of the patient has been uneventful with annual imaging showing no evidence of recurrence. Angiomyxomas do not characteristically invade other tissues. However, any liver lesion displaying suspicious features of malignancy should be resected in the absence of disseminated disease.

Incidental Detection of Peri-Renal Hemorrhage on F-18 FDG PET/CT Imaging in a Patient with Polycystic Kidney Disease.

A 72-year-old male patient with a history of polycystic kidney disease and lung malignancy underwent F-18 fluorodeoxyglucose positron emission tomography/computed tomography (FDG PET/CT) for the evaluation of tumor recurrence. The FDG PET/CT and subsequent non-enhanced CT scans revealed a hemorrhage in the peri-renal space of the left original kidney. Interesting in this case was the incidental detection of unexpected peri-renal hemorrhage during an oncologic assessment with FDG PET/CT.

A Successful Kidney Transplant for a Case of LMX1B Gene Mutation with a Positive Family History of Polycystic Kidney Disease

Nail-Patella syndrome is pleiotropic autosomal dominant disorder characterized by skeletal abnormalities and frequently renal disease. In this case report genetic analysis revealed a pathogenic heterozygous missense mutation of the LMX1B gene as c.[737G>A], p.([Arg246Gln)]. This variant is predicted to cause substitution of a basic arginine residue for a polar uncharged glutamine residue at position 246. The nucleotide at position 737 and amino acid at position 246 are both highly conserved across species. Although LMX1B mutation causing hereditary focal segmental glomerulosclerosis (FSGS) without any extra-renal involvement has been described as nail patella like renal disease (NPLRD) where there is partial impairment of transcriptional activity with these mutations leading to absence of other features of nail patella syndrome (NPS). Our case report gets interesting as patient had progressed relatively quickly to end stage renal disease. Some of heterozygous gene mutation FSGS cases are expected to recur after kidney transplantation. Our case has received a successful renal transplant from brother which is working well for the last 3 years without any evidence of recurrence. Another interesting feature of our case was the strong family history of unrelated other renal genetic disorder autosomal dominant adult polycystic kidney disease (ADPKD).

Polycystic kidney disease is significantly associated with dementia risk

Data on the risk of neurodegenerative diseases, including Alzheimer disease (AD) and Parkinson disease (PD), in patients with polycystic kidney disease (PKD) are lacking. A total of 4,229 patients who were aged ≥20 years and had received a diagnosis of PKD were included in the PKD cohort. For each PKD case identified, 1 participant aged ≥20 years without a history of PKD, dementia, or PD was selected from the comparison cohort. For each patient with PKD, the corresponding controls were selected 1:1 on the basis of the nearest propensity score calculated using logistic regression. The incidence density rates of dementia were 4.31 and 2.50 per 1,000 person-years in the PKD and control cohorts, respectively. A 2.04-fold higher risk of dementia was observed in patients with PKD than in controls (adjusted hazard ratio [aHR] 2.04; 95% confidence interval [CI] 1.46-2.85). Regarding the risk of different dementia subtypes, including AD and vascular dementia (VaD), the aHR for AD and presenile dementia was 2.71 (95% CI 1.08-6.75) and that for VaD was 0.90 (95% CI 0.43-1.87) in patients with PKD compared with controls, after adjustment for age, sex, and comorbidities. Compared with controls, the risk of PD increased by 1.78-fold (95% CI 1.14-2.79) in patients with PKD. In clinical practice, health care professionals should be aware of the risk of neurodegenerative diseases in patients with PKD.

Gastric Metastasis from Clear Cell Renal Cell Carcinoma Presenting with Gastrointestinal Bleeding: A Case Report

Introduction: Renal cell carcinoma (RCC) is the most common cancer originating from the kidney, it is responsible for 80 to 85 % of all primary renal neoplasms. The most common sites of metastasis include lungs, bones, liver, and brain. However, Gastric metastases from RCC are exceedingly. Hematogenous metastases to the stomach in general are rare with incidence in autopsy 0.2-9%. Breast cancer, malignant melanoma and lung cancer as the most common cancers metastasizing to the stomach. There are only few cases in literature of RCC gastric metastasis, most of them are of clear cell type. It can be diagnosed even many years after removal of the primary cancer which indicates slow growing potential. Case report: 67-year-old male patient with past medical history of polycystic kidney disease, live donor renal transplant in 2002, and metastatic left sided renal cell carcinoma treated with radical nephrectomy and resection of pulmonary metastasis in 2014. He presented with multiple episodes of black tarry stool for the last 2 days. He was on aspirin and ticagrelor. Initial laboratory workup showed Hemoglobin 8.8 g/dl; platelet count 344*1000/cmm; and INR 1.2. The patient was admitted for stabilization and further evaluation of gastrointestinal bleeding. The patient was started on pantoprazole infusion and ordered 2 units of PRBCs. His aspirin and ticagrelor were held. Esophagogastroduodenoscopy (EGD) showed a 2.5 to 3.0 cm polypoid mass in the gastric fundus. The polyp was 90% removed with a polypectomy snare and cautery. Bleeding occurred after the procedure and hemostasis was achieved by local epinephrine injection, and application two Cook hemostasis clips. Histologic examination demonstrates tumor composed of nests and fascicles of cells with abundant clear cytoplasm and moderately pleomorphic nuclei with prominent eosinophilic nucleoli. Immunohistochemical staining was most consistent with metastatic clear cell renal cell carcinoma, and it was comparable with right lung biopsy resected in 2014.Figure 1Conclusion: Gastric involvement in renal cell carcinoma is rare even-though it's reported. The possibility of gastrointestinal involvement should always be considered in any patient with history of cancer who presents with gastrointestinal symptoms. Immunohistochemistry is also very useful in the diagnostic workup and in many cases it is possible to make a diagnosis in the absence of access to the primary tumor.Figure 2

Risk of cancer in patients with polycystic kidney disease: a propensity-score matched analysis of a nationwide, population-based cohort study

Data for the risk of any solid cancer in patients with polycystic kidney disease are scarce. Therefore, we did a nationwide cohort study in Taiwan to establish the risk of cancer in patients with polycystic kidney disease without either chronic kidney disease or end-stage renal disease. From inpatient claims of the Taiwan National Health Insurance Research Database, we included patients aged 20 years and older and diagnosed with polycystic kidney disease between January, 1998 and December, 2010, in the polycystic kidney disease cohort. Patients with a history of cancer, a history of chronic kidney disease or of end-stage renal disease (recorded from the Registry of Catastrophic Illness Patient Database) were excluded. For each patient with polycystic kidney disease, one patient aged older than 20 years with no history of polycystic kidney disease or cancer was randomly selected from the National Health Insurance Research Database, matched 1:1 on the basis of the propensity score calculated by logistic regression, and was included in the control non-polycystic kidney disease cohort. The follow-up period for each patient was estimated from the index date to the date of diagnosis of cancer, or the patient was censored due to withdrawal from the insurance programme (eg, death, immigration, or imprisonment) or on Dec 31, 2011. The primary outcome of interest was a diagnosis of cancer during a 14-year follow-up period. The risk of cancer was represented as a hazard ratio (HR) calculated in Cox proportional hazard regression models. 4346 patients with polycystic kidney disease and 4346 without were enrolled in the study. The median follow-up period in the polycystic kidney disease cohort was 3·72 years (IQR 1·25-7·31) and in the non-polycystic kidney disease cohort was 4·96 years (2·29-8·38). The overall incidence of cancer was higher in the polycystic kidney disease cohort than in the control cohort (20·1 [95% CI 18·3-21·9] per 1000 person-years vs 10·9 [10·1-11·8] per 1000 person-years; crude hazard ratio (HR) 1·77 [95% CI 1·52-2·07]; HR adjusted for age, sex, frequency of medical visits, and comorbidities was 1·83 [1·57-2·15]). The specific risks (adjusted subhazard ratios) were significantly higher in the polycystic kidney disease cohort than that in the non-polycystic kidney disease cohort for liver cancer (1·49 [95% CI 1·04-2·13]; p=0·030), colon cancer (1·63 [1·15-2·30]; p=0·006), and kidney cancer (2·45 [1·29-4·65]; p=0·006). To our knowledge, this is the first report of the association of polycystic kidney disease without end-stage renal disease with the risk of liver, colon, and kidney cancer. Health-care professionals should be aware of this risk, when treating patients with polycystic kidney disease. Taiwan Ministry of Health and Welfare Clinical Trial and Research Center of Excellence, Academia Sinica Taiwan Biobank, Stroke Biosignature Project, NRPB Stroke Clinical Trial Consortium, Tseng-Lien Lin Foundation, Taiwan Brain Disease Foundation, Katsuzo and Kiyo Aoshima Memorial Funds, China Medical University Hospital, and Taiwan Ministry of Education.

1040-LBP: Short Tandem Repeat (STR) analysis used to assess biological identity between a potential kidney donor-recipient pair of twins with the patient having a history of Polycystic Kidney Disease

Chimerism analysis is an important tool for post-transplant management of allogeneic Stem Cell Transplantation. It is also commonly used for human identity testing in non-clinical settings. In this case, we report the use of this technique to assess identity of a potential kidney donor-recipient pair of twins. Chimerism analysis was performed using 16 STR markers and HLA typing was by intermediate resolution sequence-specific oligonucleotide probes (SSOP). Single Antigen Bead assay by Luminex was performed to determine cPRA. An eighteen-year-old female, with history of autosomal dominant polycystic kidney disease (ADPKD) and hypertension since birth, has a healthy twin sister. Due to this disease, the sick twin underwent a deceased donor kidney transplant. The patient lost graft function due to graft rejection and was restarted on dialysis. She developed a high level of sensitization with cPRA of 99%, and has been on the transplant waiting list for six years. The healthy twin is willing to donate a kidney to her sister and HLA typing of the twins revealed complete identity. However, concerns arose because being twins, the chances of developing the disease could not be underestimated. In order to evaluate the risk of the healthy sister to develop ADPKD, we performed chimerism analysis to determine if these siblings were identical. STR analysis revealed differences between the markers. Our data shows that the patient and her sister are HLA identical, but not identical twins. By using STR analysis, we provided the patient and her family with the prospect to make an informed decision on disease risk as well as the opportunity for the patient to be transplanted with minimal risk of rejection since the patient and her twin are HLA identical.

Effect of percutaneous renal denervation on blood pressure level and sympathetic activity in a patient with polycystic kidney disease

Sirs: The underlying mechanisms for the rise in blood pressure in individuals with autosomal dominant polycystic kidney disease (ADPKD) are complex, and experimental and clinical data support the concept that sympathetic hyperactivity may contribute to the pathogenesis of hypertension in ADPKD [1, 2]. More recently, a catheter-based percutaneous aimed at ablating both efferent and afferent renal nerve fibres has been introduced into clinical medicine and has been demonstrated to safely and effectively reduce blood pressure in patients with treatment resistant hypertension and normal renal function [3–6]. However, to our knowledge there is only one report of Shetty et al. [7] who observed after renal denervation resolution of chronic pain related to renal cysts and delayed fall in blood pressure in patient with ADPKD and resistant to treatment hypertension. No data on reduction of sympathetic activity has been shown. A 26-year-old male with polycystic kidney disease was referred to the Department of Hypertension by the end of 2012 for the consideration of percutaneous renal denervation due to resistant hypertension. At the age of 20, the patient was first diagnosed with hypertension and also with ADPKD. A family history of polycystic kidney disease was present in the mother and in addition to in a sister. At the time of referral, the patient had an office blood pressure of 162/77 mmHg and an average day-time ambulatory blood pressure of 138/73 mmHg despite four antihypertensive medications comprising valsartan 160 mg od, amlodipine 10 mg od, nebivolol 2.5 mg od, and hydrochlorothiazide 25 mg od. No history of cardiovascular disease or diabetes was reported, the patient has never smoked. The patient has normal renal function at baseline with a serum creatinine of 74 μmol/L and estimated glomerular filtration rate by MDRD formula of >60 mL/min/1.73 m2. The patient was not troubled by chronic flank pain. On Doppler duplex examination renal arteries were normal, renal resistive index values were 0.61 and 0.66 in the right and left kidney, respectively. Abdominal ultrasound showed enlarged size of right (145 mm) and left (180 mm) kidney with multiple simple renal cortical cysts with a maximum diameter of 3 cm. Hepatic cysts were not present. Abdominal MRI showed bilateral simple appearing renal cysts in the upper and lower poles. Microneurography was performed before and 3 months after the renal denervation. Muscle sympathetic-nerve activity (MSNA) signals were recorded by an electrode placed into the peroneal nerve at the popliteal fossa, posterior to the fibular head and the reference electrode was placed subcutaneously 2–3 cm from the recording electrode. Due to his uncontrollable blood pressure percutaneous renal sympathetic denervation using the Symplicity Catheter® system was performed as described previously [5], with five ablations in left and six in right renal artery (Fig. 1). The patient was discharged the following day on his pre-ablation antihypertensive regimen. The only complication of the procedure was transient stenosis of both arteries resulting from artery spasm and edema. Fig. 1 Symplicity Catheter® in the left renal artery. It was possible to perform five ablations in the left renal artery The patient was reviewed at 1 and 3 months post renal sympathetic denervation. At 1 month follow up he had improvement in his systolic blood pressure with an office reading of 129/60 mmHg and at 3 month follow up his blood pressure had dropped to 120/74 mmHg. A 24-h ambulatory blood pressure monitoring at 1 and 3 months confirmed blood pressure control with a mean day-time blood pressure of 131/68 and 128/65 mmHg, respectively. His renal function remained unchanged at 1 and 3 months. Microneurography at 3 months showed a reduction in MSNA (Fig. 2), as assessed in the peroneal nerve. Fig. 2 Reduction in blood pressure and muscle sympathetic-nerve activity (MSNA), as assessed in the peroneal nerve on microneurography 3 months after bilateral renal-nerves ablation Our case report confirms the safety and effectiveness of a catheter-based renal denervation approach for the treatment of resistant hypertension in patients with ADPKD. While a single case has its obvious limitations, the fall in blood pressure after the procedure was accompanied by the decrease in the sympathetic activity being likely mediated via ablations of different fibres responsible. However, it should be mentioned that MSNA may not give information specifically about renal sympathetic activity [8]. In our case, larger reductions in office than in ambulatory blood pressure were noticed. However, these changes were of comparable magnitude as reported in the prospective studies [5, 9, 10]. In these groups, also the discrepancy between reduction in office and ambulatory blood pressure was also noted, but is should be stressed that observed reductions provide an equivalent reduction in cardiovascular events [5, 8, 11]. Confirmation of substantial BP lowering via catheter-based renal afferent denervation in patients with ADPKD in future studies may provide a valuable and safe alternative for the management of this difficult clinical condition.

Situs inversus and cystic kidney disease: Two adult patients with this Heterogeneous syndrome

SummaryBackground:Situs inversus is a rare complication of cystic kidney diseases. Only three genes, INVS (NPHP2), NPHP3 and PKD2 have been proved to be responsible for some cases, while the responsible genes in many others are still unknown.Case Reports:Here we report two male patients with situs inversus combined with cystic kidney disease without any family history of polycystic kidney disease. Their renal function was normal in childhood but culminated in end stage renal disease in middle age. No pathogenic mutations were found in mutation analysis of INVS, IFT88, PKD2, UMOD or NPHP3 in them.Conclusions:Past reported cases of situs inversus and cystic kidney diseases were divided into three groups, i.e., gestational lethal renal dysplasia group, infantile or juvenile nephronophthisis group and polycystic kidney disease group. The present patients are different from each of these groups. Moreover, the renal lesions of the present two cases are quite different from each other, with one showing mildly atrophic kidneys with small numbers of cysts and the other an enlarged polycystic kidney disease, suggesting very heterogeneous entities.

Renal Cyst Infection Caused by Brucella abortus

A 49-year-old man with a medical history of polycystic kidney disease was presented to the emergency department with fever and left flank pain. Abdominal examination revealed an enlarged and painful left kidney. The C-reactive protein level was significantly high and the magnetic resonance imaging revealed areas of abnormal intensity and fluid–fluid levels in renal cysts. Brucella abortus was yielded from both blood and cyst fluid culture. Standard therapy (rifampicin plus doxycycline) of brucellosis was started, but the clinical and laboratory signs subsided after the addition of ciprofloxacin. There was no need for aspiration of infected cyst fluid. Hereby, according to the medical database search, we report that the first renal cyst infection caused by B. abortus was successfully treated with triple antibiotic therapy.

Quiz Page December 2012: Bilateral Kidney Enlargement and Acute Kidney Injury in a Patient With HIV Infection

Quiz Page December 2012: Bilateral Kidney Enlargement and Acute Kidney Injury in a Patient With HIV Infection