Renal Cysts Research Articles

An unusual variant of intrarenal refluxes in the renal sinus cyst

An unusual variant of intrarenal refluxes in the renal sinus cyst

Unilateral Renal Cystic Disease

Background: Unilateral renal cystic disease of kidney is a non familial and non progressive disorder, characterized by replacement of the renal parenchyma by a cluster of multiple cysts with a normal contralateral kidney. Case: A 2-day-old newborn baby came to the Urology Department of the Perinatology Department of Andalas University Hospital. The baby with prenatal ultrasound results showed unilateral hydronephrosis and multicystic kidneys. From the postnatal ultrasound, it was found: The right kidney was normal in shape and size; clear differentiation of the cortex and medulla; the pelvic calyx system was not dilated; No stones were seen; There were multiple cystic lesions with regular borders in the renal cortex, the largest cyst size was 5.5x4 cm. The left kidney was normal in shape and size; clear differentiation of the cortex and medulla; The pelvic calyx system was not dilated; No stones or sludge were seen. The impression of multiple renal cysts. The patient was followed up for renal function and cyst development. Conclusion : This case highlights the importance of early diagnosis and follow-up in infants with unilateral renal cystic lesions. Differentiating URCD from other cystic renal diseases is essential for appropriate management and counseling. Further studies are needed to elucidate the pathogenesis and long-term outcomes of URCD.

The application value of whole exome sequencing technology in diagnosis of hereditary renal cysts

The data of 57 renal cyst patients who visited the First Affiliated Hospital of Zhengzhou University from January 2023 to March 2024 were retrospectively analyzed. The age of patients ranged from three months to 60 years old, with 31 males and 26 females. The whole exome sequencing (WES) detected pathogenic or suspected pathogenic (P/LP) variants in 48 renal cystic probands, with a detection rate of 84.2% (48/57), including PKD1, PKD2, PKHD1, LRP5, COL4A4 and ALG8 gene variants as well as copy number variations (CNV). In addition, four PKD1 gene variants of uncertain significance (VUS) were detected. In five WES negative families, one PKD1 nonsense variation was detected through long-range PCR (LR-PCR)+Oxford nanopore technologies, and one heterozygous deletion in exon 22 of PKD1 gene was detected through multiplex ligation-dependent probe amplification (MLPA). In summary, WES can detect multiple types of variations, which is helpful for early diagnosis and prognosis prediction of renal cyst patients. However, there is still a risk of failing to detect PKD1 gene by WES, therefore, healthcare practitioners should beware of the negative results of WES.

Importance of IFT140 in Patients with Polycystic Kidney Disease Without a Family History

Recently, the monoallelic loss-of-function IFT140 variant was identified as a causative gene for autosomal dominant polycystic kidney disease (ADPKD). In patients with polycystic kidneys who have a positive family history, >90% have pathogenic variants in PKD1 or PKD2, whereas only 1% have IFT140. However, approximately 40% of patients with polycystic kidneys without a family history do not have any pathogenic variants in PKD1 and PKD2. We conducted a comprehensive genetic analysis of 157 adult patients with polycystic kidneys whose parents did not have evident polycystic kidneys. We sequenced up to 92 genes associated with inherited cystic kidney disease, including IFT140. Of the 157 patients, 7 (4.5%) presented with monoallelic loss-of-function variants in the IFT140 gene, 51 (32.5%) with pathogenic variants in the PKD1 or PKD2 gene, and 7 (4.5%) with pathogenic variants in other genes related to inherited kidney cystic disease. The proportion of monoallelic loss-of-function IFT140 variants in this cohort was higher than that in previously reported cohorts with polycystic kidneys who had a positive family history. None of the patients with monoallelic loss-of-function IFT140 variants had polycystic liver disease (PLD). Furthermore, patients with IFT140 pathogenic variants had a significantly smaller kidney volume and a remarkably higher estimated glomerular filtration rate (eGFR) than those with PKD1 pathogenic variants (P= 0.01 and 0.03, respectively). Because the phenotype of polycystic kidneys caused by the IFT140 gene is mild, parental kidney disease may be overlooked. Therefore, patients without a positive family history are more likely to carry pathogenic variants in IFT140.

DEEP LEARNING BASED KIDNEY DISEASE CLASSIFICATION SYSTEM

Kidney disease is a significant global health issue that requires timely and accurate diagnosis to improve patient outcomes. This project presents a deep learning-based kidney classification system designed to assist in the early detection and classification of various kidney conditions using medical imaging data. The proposed system leverages advanced convolutional neural networks (CNNs) to analyze and classify kidney ultrasound and MRI images, distinguishing between healthy kidneys and those affected by diseases such as kidney stones, cysts, and tumors. This methodology enhances the model's ability to learn intricate patterns and features associated with different kidney conditions, ensuring high classification accuracy and robustness. Keywords: Deep Learning, Kidney Classification, Medical Imaging, Convolutional Neural Networks (CNNs)

Robot-assisted treatment of simple renal cysts

BACKGROUND: The gold standard in the surgical treatment of simple renal cysts is laparoscopic cyst fenestration. However, laparoscopic procedures have disadvantages which include poor ergonomics of the instruments hindering surgeon's work in children's small abdomen. Robot-assisted surgery has the potential to make surgeon's work easier and to improve surgical outcomes in patients with kidney cysts for the instruments have seven degrees of freedom, hand tremor is filtered. It also promotes comfortable console positioning for the surgeon, and three-dimensional wide-angle imaging of the surgical field. AIM: To present the first experience of applying robot-assisted surgery for fenestration (decortication) of the outer portion of the cyst and argon-plasma coagulation of its inner lining. METHODS: The author's present retrospective data of all patients with simple renal cysts operated on with robot-assisted approach at the Irkutsk State Regional Children's Clinical Hospital. The diagnosis was put after ultrasound examination of kidneys and after computed tomography with intravenous contrast agent. Surgery was performed using a new model of the Versius robotic system manufactured by Cambridge Medical Robotics (UK). RESULTS: Patients' mean age at the time of surgery was (13±5.3) years (median 15 [11; 16] years), mean weight — (46.7±17.2) kg (median 54 [40.5; 56.5] kg), smallest body weight — 27 kg, size of cysts — (1.8±2.4) cm (median 0.4 [0.4; 2.5] cm). Cystic formations in all patients were located on the left: in the upper pole in 2 patients, in the lower pole in 1 patient. During the surgical intervention, there were no complications in the form of bleeding from the kidney parenchyma or damage to neighbouring organs. Histological analysis revealed that the lining of the cyst wall contained transitional epithelium without signs of malignancy. Duration of surgery was (136.7±72.2) min (median 95 [95; 157] min), duration of patients' stay in the intensive care unit — (19.9±2.5) hours (median21.3 [19.1; 21.4] hours), duration of hospital stay — (9.3±2.3) days (median 8 [8; 10] days). Ultrasound examination made in 1, 3 and 6 months after the surgery revealed no signs of disease recurrence in the form of residual accumulation of fluid associated with kidney parenchyma. CONCLUSION: The experience described in the article is encouraging and confirms the reasonability and safety of robot-assisted procedures in pediatric urology.

Activation of Polycystin-1 Signaling by Binding of Stalk-derived Peptide Agonists.

Polycystin-1 (PC1) is the membrane protein product of the PKD1 gene whose mutation is responsible for 85% of the cases of autosomal dominant polycystic kidney disease (ADPKD). ADPKD is primarily characterized by the formation of renal cysts and potential kidney failure. PC1 is an atypical G protein-coupled receptor (GPCR) consisting of 11 transmembrane helices and an autocatalytic GAIN domain that cleaves PC1 into extracellular N-terminal (NTF) and membrane-embedded C-terminal (CTF) fragments. Recently, signaling activation of the PC1 CTF was shown to be regulated by a stalk tethered agonist (TA), a distinct mechanism observed in the adhesion GPCR family. A novel allosteric activation pathway was elucidated for the PC1 CTF through a combination of Gaussian accelerated molecular dynamics (GaMD), mutagenesis and cellular signaling experiments. Here, we show that synthetic, soluble peptides with 7 to 21 residues derived from the stalk TA, in particular, peptides including the first 9 residues (p9), 17 residues (p17) and 21 residues (p21) exhibited the ability to re-activate signaling by a stalkless PC1 CTF mutant in cellular assays. To reveal molecular mechanisms of stalk peptide-mediated signaling activation, we have applied a novel Peptide GaMD (Pep-GaMD) algorithm to elucidate binding conformations of selected stalk peptide agonists p9, p17 and p21 to the stalkless PC1 CTF. The simulations revealed multiple specific binding regions of the stalk peptide agonists to the PC1 protein including an "intermediate" bound yet inactive state. Our Pep-GaMD simulation findings were consistent with the cellular assay experimental data. Binding of peptide agonists to the TOP domain of PC1 induced close TOP-putative pore loop interactions, a characteristic feature of the PC1 CTF signaling activation mechanism. Using sequence covariation analysis of PC1 homologs, we further showed that the peptide binding regions were consistent with covarying residue pairs identified between the TOP domain and the stalk TA. Therefore, structural dynamic insights into the mechanisms of PC1 activation by stalk-derived peptide agonists have enabled an in-depth understanding of PC1 signaling. They will form a foundation for development of PC1 as a therapeutic target for the treatment of ADPKD.

New Variants Identified by Next-Generation Sequencing in Polycystic Kidney Disease Patients.

Polycystic kidney disease (PKD) is a common inherited disease characterized by multiple cysts in kidneys and various extra renal manifestations. Molecular diagnosis plays a crucial role in confirming both the clinical diagnosis and preimplantation genetic diagnosis furthermore, selecting appropriate treatment options. This study aimed to expand the understanding of genetic mutations in patients with polycystic kidney disease and to improve the management of patients. The study included 92 patients with a clinical diagnosis of PKD based on renal ultrasound criteria. Targeted next-generation sequencing was performed using a custom panel kit. Of the 92 patients included in the study, pathogenic/likely pathogenic variants of the PKD1, PKD2 genes were detected in 37 patients (40.2%), while 8 patients (8.6%) had variants with uncertain clinical significance. After the additional assessment of pathogenic/likely pathogenic variants, it was found that 15 of the variants in PKD1 and 2 of the variants in PKD2 have not been reported in the literature previously. Additionally, pathogenic variants, 5 of which were novel, have been identified in different genes in 8 patients. This study presented the largest patient cohort conducted in Turkey. These findings were significant in expanding our understanding of the genetic variations associated with polycystic kidney disease. The study contrıbuted the literature data on polycystic kidney disease by reporting important findings that could pave the way for further investigations in the diagnosis, treatment, and management of the affected patients.

HL156A, an AMP-Activated Protein Kinase Activator, Inhibits Cyst Growth in Autosomal Dominant Polycystic Kidney Disease.

Autosomal dominant polycystic kidney disease (ADPKD) is the most prevalent genetic kidney disorder. While metformin has demonstrated the ability to inhibit cyst growth in animal models of ADPKD via activation of adenosine monophosphate-activated protein kinase (AMPK), its effectiveness in humans is limited due to its low potency. This study explored the impact of HL156A, a new and more potent AMPK activator, in a mouse model of ADPKD. To investigate whether HL156A inhibits the proliferation of renal cyst cells in ADPKD in vitro, exogenous human telomerase reverse transcriptase (hTERT)-immortalized renal cyst cells from ADPKD patients were treated with HL156A, and an MTT (dimethylthiazol-diphenyltetrazolium bromide) assay was performed. To assess the cyst-inhibitory effect of HL156A in vivo, we generated Pkd1 conditional knockout (KO) mice with aquaporin 2 (AQP2)-Cre, which selectively expresses Cre recombinase in the collecting duct. The effectiveness of HL156A in inhibiting cyst growth and improving renal function was confirmed by measuring the number of cysts and blood urea nitrogen (BUN) levels in the collecting duct-specific Pkd1 KO mice. When cyst cells were treated with up to 20 µM of metformin or HL156A, HL156A reduced cell viability by 25% starting at a concentration of 5 µM, whereas metformin showed no effect. When AQP2-Cre male mice were crossed with Pkd1flox/flox female mice, and when AQP2-Cre female mice were crossed with Pkd1flox/flox male mice, the number of litters produced by both groups was comparable. In collecting duct-specific Pkd1 KO mice, HL156A was found to inhibit cyst growth, reducing both the number and size of cysts. Furthermore, it was confirmed that kidney function improved as HL156A treatment led to a reduction in elevated BUN levels. Lastly, it was observed that the increase in AMPK phosphorylation induced by HL156A decreased ERK phosphorylation and α-SMA expression. HL156A has potential as a drug that can restore kidney function in ADPKD patients by inhibiting cyst growth.

Flexible ureteroscopic incision and drainage or laparoscopic unroofing for the parapelvic renal cysts: A systematic review and meta‑analysis.

The aim of the present study was to compare flexible ureteroscopy and laparoscopy in the treatment of peripelvic renal cysts, so as to determine the best treatment method for patients with peripelvic renal cysts. A systematic search of the PubMed, EMBASE, Cochrane Library, CONAHL, Clinicaltrials.gov, Google Scholar, CNKI and WanFang DATA databases was conducted for articles published over 22 years (December 1980-December 2022) using the Preferred Reporting Items for Systematic Reviews and Meta-analyses guidelines. By searching the database, a total of 594 studies were found, of which eight were analyzed as evidence. A total of 394 patients were included in the present study. Of these, 193 were treated laparoscopically and 201 were treated by flexible ureteroscopy. In terms of analysis results, radiation reexamination after laparoscopic therapy had a higher success rate. Ureteroscopy has advantages in the time spent in the operation, the amount of blood lost during the operation, the time to recover the anal exhaust after the operation and the length of postoperative hospital stay. There were no significant difference in postoperative recurrence or complications between the two surgical methods. After comprehensive analysis, it was considered that flexible ureteroscopy has more advantages in the treatment of peripelvic renal cyst, which is mainly manifested in the duration of operation, the total amount of blood loss during operation, the interval of recovery of anal exhaust after operation and the total length of postoperative hospital stay. It is worth further exploration and promotion.

Rapamycin-encapsulated nanoparticle delivery in polycystic kidney disease mice

Rapamycin slows cystogenesis in murine models of polycystic kidney disease (PKD) but failed in clinical trials, potentially due to insufficient drug dosing. To improve drug efficiency without increasing dose, kidney-specific drug delivery may be used. Mesoscale nanoparticles (MNP) selectively target the proximal tubules in rodents. We explored whether MNPs can target cystic kidney tubules and whether rapamycin-encapsulated-MNPs (RapaMNPs) can slow cyst growth in Pkd1 knockout (KO) mice. MNP was intravenously administered in adult Pkd1KO mice. Serum and organs were harvested after 8, 24, 48 or 72 h to measure MNP localization, mTOR levels, and rapamycin concentration. Pkd1KO mice were then injected bi-weekly for 6 weeks with RapaMNP, rapamycin, or vehicle to determine drug efficacy on kidney cyst growth. Single MNP injections lead to kidney-preferential accumulation over other organs, specifically in tubules and cysts. Likewise, one RapaMNP injection resulted in higher drug delivery to the kidney compared to the liver, and displayed sustained mTOR inhibition. Bi-weekly injections with RapaMNP, rapamycin or vehicle for 6 weeks resulted in inconsistent mTOR inhibition and little change in cyst index, however. MNPs serve as an effective short-term, kidney-specific delivery system, but long-term RapaMNP failed to slow cyst progression in Pkd1KO mice.

Concurrent of compound heterozygous variant of a novel in-frame deletion and the common hypomorphic haplotype in TBX6 and inherited 17q12 microdeletion in a fetus

BackgroundTBX6, a member of the T-box gene family, encodes the transcription factor box 6 that is critical for somite segmentation in vertebrates. It is known that the compound heterozygosity of disruptive variants in trans with a common hypomorphic risk haplotype (T-C-A) in the TBX6 gene contribute to 10% of congenital scoliosis (CS) cases. The deletion of chromosome 17q12 is a rare cytogenetic abnormality, which often leads to renal cysts and diabetes mellitus. However, the affected individuals often exhibit clinical heterogeneity and incomplete penetrance.MethodsWe here present a Chinese fetus who was shown to have CS by ultrasound examination at 17 weeks of gestation. Trio whole-exome sequencing (WES) was performed to investigate the underlying genetic defects of the fetus. In vitro functional experiments, including western-blotting and luciferase transactivation assay, were performed to determine the pathogenicity of the novel variant of TBX6.ResultsWES revealed the fetus harbored a compound heterozygous variant of c.338_340del (p.Ile113del) and the common hypomorphic risk haplotype of the TBX6 gene. In vitro functional study showed the p.Ile113del variant had no impact on TBX6 expression, but almost led to complete loss of its transcriptional activity. In addition, we identified a 1.85 Mb deletion on 17q12 region in the fetus and the mother. Though there is currently no clinical phenotype associated with this copy number variation in the fetus, it can explain multiple renal cysts in the pregnant woman.ConclusionsThis study is the first to report a Chinese fetus with a single amino acid deletion variant and a T-C-A haplotype of TBX6. The clinical heterogeneity of 17q12 microdeletion poses significant challenges for prenatal genetic counseling. Our results once again suggest the complexity of prenatal genetic diagnosis.

Analysis of Various Laparoscopic Pediatric Urology Surgeries: Five-Year Experience of a Single Institution.

Background In this study, we aim to report our single-center experience with laparoscopic pediatric urological surgeries. We aim to determine the feasibility of various urological and urogenital laparoscopic procedures and the tricks that increase surgical success. Methodology Data from 98 patients who underwent laparoscopic urological and/or urogenital procedures for diagnostic and therapeutic purposes in our clinic between June 2018 and February 2023 were retrospectively analyzed. All surgeries were performed by the same surgical team. Laparoscopic procedures included orchidopexy, gonadectomy, vaginoplasty, hysterectomy, pyeloplasty, nephrectomy/partial nephrectomy, ureteroneocystostomy, bladder diverticulum excision, renal cyst excision, proximal ureter stone removal, oophorectomy, ovarian detorsion, oophoropexy, and lymph node excision for diagnostic purposes. The surgical planning of the patients was based on the decisions of the pediatric nephrology, pediatric endocrinology, and pediatric oncology departments and the multidisciplinary council. Demographic characteristics of the patients, surgical indications, and intraoperative data, as well as postoperative pathological diagnoses and complications, were recorded. All patients underwent a transperitoneal approach. The duration of the operation was obtained from anesthesia records and defined as the time from the beginning of the surgical incision to the closure of the skin incision. Results Of the patients, 54 were males and 44 were females. The median age was 7.8 years. No complications other than grade 1 according to the Clavien-Dindo classification were observed in our patients. As different types of surgeries were analyzed, the mean operative duration was estimated. Conclusions The laparoscopic method should be performed by surgeons experienced in advanced surgeries in pediatric urology. It is critical to consider the difference in the size of pediatric patients in preparation for laparoscopic surgery to minimize technical and ergonomic problems. We believe that each surgery has its specific tricks and that these should be a part of laparoscopy training. Moreover, developing and sharing this information would be very useful for pediatric urologists.

Symptomatic Simple Renal Cysts Treated with Percutaneous Sclerotherapy: Long-term Results

Background: Simple cysts are the most common lesions in the kidney and symptomatic patients require treatment. This study evaluates the use of single-sitting percutaneous sclerotherapy with needle aspiration under ultrasound (US) guidance in patients suffering from symptomatic simple renal cysts. Materials and Methods: Twenty-four patients suffering from symptomatic simple renal cysts during the period January 2018 to January 2020 underwent needle aspiration followed by sclerotherapy under ultrasound (US) guidance. Sclerotherapy with 30 mg sodium tetradecyl sulfate (STDS) was performed after aspiration of the renal cysts. A total of 28 symptomatic simple renal cysts in 22 patients were included in the study, two patients were lost for follow-up. The follow-up period was 48 months. Results: The diameter of the renal cysts ranged between 5.5 and 8.5 cm (mean: 6.24 ± 1.05 cm), and between 0 and 4 cm (mean: 0.286 ± 0.004 cm) before and after sclerotherapy, respectively (P < 0.001). The average diameter reduction was 92.16% during the follow-up period of 48 months. Flank pain was resolved in all the patients (100%). The procedure was termed “success” with all the patients. The three cysts in which, the reduction of size was <75% were more than 8 cm in initial size, and in one case, it was bilateral renal cysts. In these cases also, the pain was reduced completely and did not require any further treatment. We did not observe any procedure-related complications. Conclusion: Single-sitting needle aspiration with sclerotherapy using STDS under US guidance is an effective and safe method for treating symptomatic simple renal cysts.

Incorporating genetic testing into a routine kidney clinic.

Incorporating genetic testing in routine outpatient nephrology clinic can improve on chronic kidney disease (CKD) diagnosis and utilization of precision medicine. We sent a genetic test on patients with atypical presentation of common kidney diseases, electrolytes derangements, and cystic kidney diseases. We were able to identify a gene variant contributing to patients' kidney disease in more than half of our cohort. We then showed that patients with ApoL1 risk allele have likely worse kidney disease, and we were able to confirm genetic focal segmental glomerulosclerosis (FSGS) in 2 patients and avoid unnecessary immunosuppression. Genetic testing has also improved our operation to establish a polycystic kidney disease excellence center by confirming our diagnosis, especially in patients without a well-defined family history. In conclusion, utilizing genetic testing in a routine outpatient renal clinic did not cause any burden to either patients or nephrologists, with minimal administrative effort and no financial cost to our patients. We expect that genetic testing in the right setting should become routine in nephrology to achieve a patient-centered precision medicine with less invasive means of kidney disease diagnosis.

A contrast-enhanced computed tomography-based radiomics nomogram for preoperative differentiation between benign and malignant cystic renal lesions.

There is lack of discrimination as to traditional imaging diagnostic methods of cystic renal lesions (CRLs). This study aimed to evaluate the value of machine learning models based on clinical data and contrast-enhanced computed tomography (CECT) radiomics features in the differential diagnosis of benign and malignant CRL. There were 192 patients with CRL (Bosniak class ≥ II) enrolled through histopathological examination, including 144 benign cystic renal lesions (BCRLs) and 48 malignant cystic renal lesions (MCRLs). Radiomics features were extracted from CECT images taken during the medullary phase. Using the light gradient boosting machine (LightGBM) algorithm, the clinical, radiomics and combined models were constructed. A comprehensive nomogram was developed by integrating the radiomics score (Rad-score) with independent clinical factors. Receiver operating characteristic (ROC) curves were plotted. The corresponding area under the curve (AUC) value was worked out to quantify the discrimination performance of the three models in training and validation cohorts. Calibration curves were worked out to assess the accuracy of the probability values predicted by the models. Decision curve analysis (DCA) was worked out to assess the performance of models at different thresholds. Maximum diameter and Bosniak class were independent risk factors of patients with MCRL in the clinical model. Twenty-one radiomics features were extracted to work out a Rad-score. The performance of the clinical model in the training cohort was AUC =0.948, 95% confidence interval (CI): 0.917-0.980, and the performance in the validation cohort was AUC =0.936, 95% CI: 0.859-1.000 (P<0.05). The performance of the radiomics model in the training cohort was AUC =0.990, 95% CI: 0.979-1.000, and the performance in the validation cohort was AUC =0.959, 95% CI: 0.903-1.000 (P<0.05). Compared with the above models, the combined radiomics nomogram had an AUC of 0.989 (95% CI: 0.977-1.000) in the training cohort and an AUC of 0.962 (95% CI: 0.905-1.000) in the validation cohort (P<0.05), showing the best diagnostic efficacy. The radiomics nomogram integrating clinical independent risk factors and radiomics signature improved the diagnostic accuracy in differentiating between BCRL and MCRL, which can provide a reference for clinical decision-making and help clinicians develop individualized treatment strategies for patients.

Reprogramming of Energy Metabolism in Human PKD1 Polycystic Kidney Disease: A Systems Biology Analysis.

Multiple alterations of cellular metabolism have been documented in experimental studies of autosomal dominant polycystic kidney disease (ADPKD) and are thought to contribute to its pathogenesis. To elucidate the molecular pathways and transcriptional regulators associated with the metabolic changes of renal cysts in ADPKD, we compared global gene expression data from human PKD1 renal cysts, minimally cystic tissues (MCT) from the same patients, and healthy human kidney cortical tissue samples. We found gene expression profiles of PKD1 renal cysts were consistent with the Warburg effect with gene pathway changes favoring increased cellular glucose uptake and lactate production, instead of pyruvate oxidation. Additionally, mitochondrial energy metabolism was globally depressed, associated with downregulation of gene pathways related to fatty acid oxidation (FAO), branched-chain amino acid (BCAA) degradation, the Krebs cycle, and oxidative phosphorylation (OXPHOS) in renal cysts. Activation of mTORC1 and its two target proto-oncogenes, HIF-1α and MYC, was predicted to drive the expression of multiple genes involved in the observed metabolic reprogramming (e.g., GLUT3, HK1/HK2, ALDOA, ENO2, PKM, LDHA/LDHB, MCT4, PDHA1, PDK1/3, MPC1/2, CPT2, BCAT1, NAMPT); indeed, their predicted expression patterns were confirmed by our data. Conversely, we found AMPK inhibition was predicted in renal cysts. AMPK inhibition was associated with decreased expression of PGC-1α, a transcriptional coactivator for transcription factors PPARα, ERRα, and ERRγ, all of which play a critical role in regulating oxidative metabolism and mitochondrial biogenesis. These data provide a comprehensive map of metabolic pathway reprogramming in ADPKD and highlight nodes of regulation that may serve as targets for therapeutic intervention.

Genetic landscape and clinical outcomes of autosomal recessive polycystic kidney disease in Kuwait

BackgroundAutosomal recessive polycystic kidney disease (ARPKD), a rare genetic disorder characterized by kidney cysts, shows complex clinical and genetic heterogeneity. This study aimed to explore the genetic landscape of ARPKD in Kuwait and examine the intricate relationship between its genes and clinical presentation to enhance our understanding and contribute towards more efficient management strategies for ARPKD. MethodsThis study recruited 60 individuals with suspected ARPKD from 44 different families in Kuwait. The participants were of different ethnicities and aged 0–70 years. Additionally, 33 were male, 15 were female, and 12 had indeterminant sex due to congenital anomalies. Comprehensive clinical data were collected. Mutations were identified by next-generation whole exome sequencing and confirmed using Sanger sequencing. ResultsOf the 60 suspected ARPKD cases, 20 (33.3 %) died within hours of birth or by the end of the first month of life and one (1.7 %) within 12 months of birth. The remaining 39 (65.0 %) cases were alive, at the time of the study, and exhibited diverse clinical features related to ARPKD, including systematic hypertension (5.0 %), pulmonary hypoplasia (11.7 %), dysmorphic features (40.0 %), cardiac problems (8.3 %), cystic liver (5.0 %), Potter syndrome (13.3 %), developmental delay (8.3 %), and enlarged cystic kidneys (100 %). Twelve mutations, including novel truncating mutations, were identified in 31/60 cases (51.7 %) from 17/44 families (38.6 %). Additionally, 8/12 (66.7 %) mutations were in the PKHD1 gene, with the remaining four in different genes: NPHP3, VPS13P, CC2D2A, and ZNF423. ConclusionsThis study highlights the spectrum of clinical features and genetic mutations of patients with ARPKD in Kuwait. It highlights the necessity for personalized approaches to improve ARPKD diagnosis and treatment, offering crucial insights into managing ARPKD.

Our initial experiences with laparoscopic urologic surgery in a peripheral hospital in Central Java, Indonesia

Introduction: Nowadays, laparoscopic surgery in urology is widely adopted as a surgical technique for almost all cases, rendering the traditional open surgery approach obsolete. The increased use of laparoscopic surgical procedures has significantly contributed to progress in many urology areas. This study evaluates the initial experience with laparoscopic urology surgery in Banyumas General Hospital, a peripheral hospital in Indonesia. Method: Between May 2023 and October 2023, laparoscopic urologic surgery was performed on 36 patients. The patient’s demographic characteristics, pre-operative diagnosis, type of laparoscopic approach, and intraoperative and post-treatment results were gathered and analyzed retrospectively. Result: The mean patient age is 58.69±13.52 years, with 12 (33.33%) female patients and 24 (66.67%) male patients. While 20 had ureterolithotomy, 3 had pyelolithotomy, 5 had radical cystectomy, 2 patients received unroofing renal cyst, 1 had pyeloplasty, 1 had ureteral Anastomosis, and 1 had radical nephroureterectomy, 1 had a simple nephrectomy, 1 had diverticulectomy, and 1 had orchidopexy. 2 (5,56%) of the 36 patients must be converted to open surgery. The mean duration of surgery for procedures we did was as follows: ureterolithotomy 86.25 ± 7.23 minutes, pyelolithotomy 96.67 ± 7.64, radical cystectomy 418± 64.09 min, unroofing renal cyst 57.5 ± 10.61 minutes, pyeloplasty 130 minutes, ureteral anastomosis 220 minutes, radical nephroureterectomy 210 minutes, simple nephrectomy 140 minutes, diverticulectomy 215 minutes, and orchidopexy 125 minutes. The mean hospital stay was 4.39 ± 2.28 (2-11) days. There are major complications, but no mortality was encountered. Conclusion: Laparoscopic surgery is an effective technique with excellent outcomes, a safe and feasible alternative to open surgery in urology.

The management of children with symptomatic, uncomplicated renal cysts: Case study

The management of children with symptomatic, uncomplicated renal cysts: Case study