Bilateral Multicystic Dysplastic Kidney Research Articles

The Outcome of Multicystic Dysplastic Kidney Disease Patients at King Abdulaziz Medical City in Riyadh.

Background Multicystic dysplastic kidney (MCDK) is a type of kidney dysplasia consisting of many irregular, various-sized cysts divided by dysplastic renal tissue, which negatively impacts kidney function. MCDK is one of the most common renal congenital disorders seen in antenatal ultrasounds. The typical prognosis of MCDK is complete or partial involution that starts antenatally and continues postnatally. The aim of the study was to shed light on the overall outcome of patients with MCDK. Methods We retrospectively collected data on MCDK patients from 2016 until 2022 at King Abdulaziz Medical City, Ministry of National Guard Health Affairs in Saudi Arabia, Riyadh. The data included the recording of epidemiological data, radiological and laboratory reports, and the presence of urological or non-urologically associated anomalies. Results A total of 57 patients with MCDK were reviewed. Seven of them were excluded due to the diagnosis of bilateral MCDK, which was incompatible with life. Of the remaining 50 patients, the right kidney was affected in 52% of them. Most patients were diagnosed antenatally (98%). The mean duration of follow-up for the study was 48 months. Vesicoureteral reflux (VUR) was detected in 22% of the total sample. Overall, 90% of the patients underwent kidney involution. A small percentage had genitourinary anomalies (20%), while a larger percentage (48%) had extrarenal abnormalities. Conclusion Multicystic dysplastic kidney disease is relatively common in children. The prognosis is affected by the presence of genitourinary and non-genitourinary anomalies. Patients have an overall good prognosis with conservative management. Antenatal screening, diagnosis, and long-term nephrological follow-up are essential for the optimal management of patients.

An infant girl with bilateral multicystic dysplastic kidney: a case report

Multicystic dysplastic kidney (MCDK) is a congenital kidney abnormality with an overall incidence rate of 1/4300 live births that is more prevalent in males than females. Here, we describe a rare case of bilateral MCDK complicated by hypertension, severe vesicoureteral reflux (VUR), and urinary tract infection (UTI), who stabilized during hospitalization with prospective kidney transplantation due to poor prognosis. Since bilateral MCDK is a rare disease with numerous complications and a poor prognosis, patient symptom management and treatment may be more challenging.

Sonographic Detection of Multicystic Dysplastic Kidneys

Multicystic dysplastic kidney (MCDK) is a common nonhereditary cystic dysplasia that can be detected antenatally. This disorder commonly manifests in utero and presents unilaterally; however, this patient’s case demonstrates bilateral MCDKs. The use of sonography is essential in diagnosing this disorder both antenatally and following birth. Bilateral MCDKs present as large anechoic cysts overtaking renal parenchyma and halting all normal renal physiologic functions. This case study demonstrates the importance of early detection, the progression of this disorder, as well as the large part sonographic imaging plays in visualizing the MCDK.

Predictors of poor neonatal outcomes in fetuses diagnosed with congenital urinary tract anomalie.

Urinary tract anomalies account for approximately one-quarter of all antenatally detected anomalies. The aim of this study was to identify factors associated with severe adverse neonatal outcomes of a prenatally diagnosed urinary tract anomaly. A retrospective-prospective study included 101 pregnant women with prenatally diagnosed fetal urinary tract anomalies presented to the Council for Fetal Anomalies. Prenatal diagnoses were compared with autopsy findings in cases of terminated pregnancy or with clinical and operative findings of the infants. The mortality rate in the group of patients with fetal obstructive uropathy (60 patients) was 10% and in the group of patients with fetal multicystic dysplastic kidney (38 patients) 15.7%. Surgery was performed on 53.4% of the children, whereas more than half of the operations involved resolving associated urinary tract anomalies. Postoperative renal function deterioration occurred in 19% of the children. The prognosis of renal function in obstructive uropathies is excellent if oligoamnios does not develop prenatally and in case of timely provided surgical care is provided postnatally. The finding of the bilateral multicystic dysplastic kidney is associated with poor prognosis. The prognosis in fetal unilateral multicystic dysplastic kidney depends primarily on the condition of the contralateral kidney and the existence of associated anomalies.

Prenatal detection of isolated bilateral hyperechogenic kidneys: Etiologies and outcomes

To delineate the etiology and outcome of prenatally diagnosed isolated bilateral hyperechogenic kidneys (IBHK). Pregnancies with IBHK on prenatal ultrasound identified and followed by us between January 1, 2000 and January 1, 2015 were evaluated regarding the etiology and outcome by evaluation of family history, targeted AR-PKD and AD-PKD DNA analysis, and microarray analysis, according to renal size and amniotic fluid volume. Of the 52 identified cases, there were 34 cases with enlarged kidneys, 16 with normal size kidneys, and two with small kidneys. There were seven cases with AD-PKD, six inherited, and one with de novo causative variants in the PKD1 gene. Fifteen had AR-PKD, and microarray analysis showed two inherited findings: one with 17q12 deletion including the HNF1B/TCF2 gene inherited from asymptomatic mother and a duplication at 3p26.1 inherited from a healthy father. Of the remaining four cases, three cases had bilateral multicystic dysplastic kidneys, and one had unilateral renal agenesis. Microarray analysis and mutation analysis for PKD1 and PKHD1 have an important contribution to the diagnostic investigation of IBHK and to the management of affected and future pregnancies. Poor outcome was associated with large hyperechoic kidneys with oligohydramnios.

Magnetic resonance imaging for evaluation of foetal multicystic dysplastic kidney

We sought to evaluate the diagnostic value of foetal magnetic resonance imaging (MRI) for multicystic dysplastic kidney (MCDK) disease. We retrospectively identified 55 foetuses with MCDK diagnosed (51 unilateral; 4 bilateral) by foetal MRI. We analysed the anatomical findings by prenatal MRI and compared them with the prenatal ultrasound (US) and postnatal findings. Additional diagnostic information added by MRI was recorded. The gestational age of the 55 foetuses ranged from 22 to 35 weeks (mean, 26.5 ± 3.6 weeks). The age of the pregnant women ranged from 23 to 40 years (mean, 31 ± 4.2 years). All 55 cases were performed at 1.5 T magnetic resonance unit. MRI sequences, including steady-state free precession (SSFP), single-shot fast spin echo (SSFSE), T1-weighted imaging (T1WI), and diffusion weighted imaging (DWI) sequences. Follow-up was obtained for 53 cases (2 cases of autopsy, 51 cases of postnatal imaging or surgery confirmed). Among the 51 unilateral cases, 16 cases were associated with other urinary tract anomalies, 3 cases with extra-renal anomalies, and the remaining 32 cases without associated anomalies. 2 of 16 cases with contralateral renal agenesis were with oligohydramnios and pulmonary hypoplasia. 2 of 4 bilateral MCDK presented with oligohydramnios and pulmonary hypoplasia. 52 of 53 cases were correctly diagnosed by MRI compared with the final diagnoses; 40 of 53 (75.5%) cases were correctly diagnosed by prenatal ultrasound. Both prenatal ultrasound and MRI failed to correctly diagnose one case bilateral MCDK, and MRI correctly changed the ultrasound diagnosis in 12 cases. Foetal MRI can add additional diagnostic information to prenatal US in the assessment of MCDK, even change the prenatal counselling and decisions.

Predictors of poor neonatal outcomes in prenatally diagnosed multicystic dysplastic kidney disease.

Multicystic dysplastic kidney (MCDK) is one of the most common anomalies detected by prenatal ultrasound. Our objective was to identify factors associated with severe adverse neonatal outcomes of prenatally diagnosed MCDK STUDY DESIGN: A retrospective review of prenatally diagnosed MCDK (1 January 2009 to 30 December 2014) from a single academic center was conducted. The primary outcome was death or need for dialysis among live-born infants. Associations between prenatal characteristics and outcome were analyzed by Fisher's exact test and Mann-Whitney test. A total of 53 cases of prenatally suspected MCDK were included, of which 46 cases were live-born and confirmed postnatally (38 survivors, 8 non-survivors). Prenatally diagnosed extrarenal anomalies, bilateral MCDK, contralateral renal anomalies, and anhydramnios were significantly associated with death or need for dialysis (all p < 0.0001). Prenatally identified findings are associated with adverse neonatal outcome, and can guide counseling and management planning. In the absence of significant associated findings, prenatally diagnosed unilateral MCDK has a benign neonatal course.

Diagnostic value of four dimensional ultrasound in detection of fetal causes of oligohydraminos: An observational study

PurposeTo evaluate the role of 3-dimensional (3DUS) and 4-dimensional ultrasound (4DUS) in detection of fetal causes of oligohydraminos. Patients and methods250 pregnant females (Age range from 19 to 45 years, mean age 33 years) were referred from the Obstetrics and Gynecology Department with oligohydraminos for fetal anomaly scan and Doppler study. Results111 of the 250 patients were primi- gravida and 139 were multigravida. Consanguinity was positive in 106 females. In 100 patients, the examined fetuses were abnormal, TORCH infection was +ve in 25 patients. In 150 cases no fetal cause was detected for oligohydraminos. Autosomal recessive polycystic kidney disease (ARPKD, Potter type I) was the commonest fetal cause in our group detected in 24 of 100 patients followed by bilateral multicystic dysplastic kidney (Potter type II) in 19 patients, unilateral renal aplasia was the least cause in our study. Conclusion3-dimensional and 4-imensional ultrasound and anomaly scan are effective in detecting fetal causes of oligohydraminos and early determination of lethal causes.

Diagnostic accuracy of midtrimester antenatal ultrasound for multicystic dysplastic kidneys.

To establish the diagnostic accuracy of obstetric ultrasound at a tertiary fetal medicine center in the prenatal detection of unilateral and bilateral multicystic dysplastic kidney (MCDK) in fetuses in which this condition was suspected, and to undertake a systematic review of the relevant literature. This was a retrospective observational study of all cases referred to a regional tertiary fetal medicine unit due to suspicion of either unilateral or bilateral MCDK between 1997 and 2015. Diagnosis was confirmed by postnatal ultrasound reports or postmortem examination. The accuracy of prenatal ultrasound in the diagnosis of MCDK was calculated. Using a systematic search strategy we also performed a review of the literature regarding the prenatal diagnosis and diagnostic accuracy of MCDK. We included 144 women in our analysis; 37 (25.7%) opted for pregnancy termination (TOP) (due to unilateral MCDK with additional abnormalities, suspected bilateral MCDK or severe obstructive uropathy). Complete pre- and postnatal data were available in 126 pregnancies, including 104 livebirths, 19 TOPs with postmortem findings available and three intrauterine fetal deaths. Two infants died shortly after birth (due to known bilateral MCDK or known cranial vault defect). The overall number of cases of MCDK confirmed postnatally was 100; of these, 98 were diagnosed prenatally (true positive), while two were thought to be hydronephrosis prenatally (false negative) and the diagnosis of MCDK was made after birth. In nine cases, the initial antenatal diagnosis of suspected MCDK was revised, either later in pregnancy (n = 2) or postnatally (n = 7) (false positive). Overall, the diagnostic accuracy in our population for the use of antenatal ultrasound to detect MCDK was 91.3%, while that reported in the existing literature was found to range from 53.3% to 100%. MCDK was isolated in the majority (71%) of cases, while in 29% of cases it was found to be associated with other renal and extrarenal fetal abnormalities. Antenatal ultrasound had a diagnostic accuracy of about 91% in the prediction of postnatal MCDK and can therefore be used to guide antenatal counseling. However, prenatal or postnatal revision of the diagnosis occurred in about 7% of cases and parents should be counseled appropriately. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd.

Sirenomelia: A Case Report of a Rare Congenital Anomaly and Review of Literature

AbstractSirenomelia, or the Mermaid Syndrome, is a very rare congenital anomaly. It is associated with varying degrees of fusion of lower limb bones, giving them the appearance of a “mermaid.” It is almost always associated with other birth defects, such as, renal abnormalities, genital anomalies, and cardiac anomalies. We report a case of sirenomelia associated with bilateral multicystic dysplastic kidneys along with bilateral hydronephrosis, severe oligohydramnios, single umbilical artery, absent anal opening, and absent genitals. To the best of our knowledge, this is the first case to be reported from our region.

Prune belly syndrome associated with bilateral multicystic dysplastic kidneys and urethral obstruction: A case report

Prune belly syndrome is a rare congenital disorder defined by a characteristic clinical triad: Abdominal muscle deficiency, severe urinary tract abnormalities,and bilateral cryptorchidism. We describe a preterm neonate of Prune Bellysyndrome who had abdominal muscle deficiency, multicystic dysplastic kidney,urethral hypoplasia and pulmonary hypoplasia. We presented this rare case withthe data gathered from the literature.

A rare case of unilateral left side multicystic dysplastic kidney and contralateral Vesico-ureteric reflux in a male neonate

Introduction: Multicystic dysplastic kidney (McDK) is a rare congenital disorder, resulting from malformation of the kidney during fetal development. It could be unilateral, bilateral or segmental and bilateral McDK is incompatible with survival. Unilateral McDK occurs in 1 in 4300 live births and combined incidence of

Prenatal diagnosis of multicystic dysplastic kidney disease in the second trimester screening

Multicystic dysplastic kidney (MCDK) is the most common antenatally diagnosed cystic renal pathology. It refers to the presence of multiple kidney cysts surrounded by dysplastic parenchymal tissue. The typical MCDK ultrasound finding shows multiple nonconnecting thin-walled cysts within an irregularly outlined kidney. We want to present our own cases as an addition to the relatively scarce literature about MCDK. We retrospectively review 54 cases (21 bilateral and 33 unilateral) with antenatally diagnosed MCDK between the years 1998 and 2012. We compare our data with the published literature and discuss different parameters. Our findings show a male predominance of 1.8 : 1 and a left side/right side ratio of 0.73 : 1. Most of the cases were isolated findings, but 20.3% were associated with anomalies. One case was a Goldenhar syndrome. Of the bilateral MCDK cases, 14.3% had chromosomal defects. The mean gestational age at time of diagnosis was 20-21 weeks. Renal length was above the 90th normal percentile in 96.2% of the cases. Isolated unilateral MCDK has good prognosis. Bad prognosis is linked to association with other anomalies as well as to bilateral MCDK.

Different phenotypes of HNF1? deletion mutants in familial multicystic dysplastic kidneys

Multicystic dysplastic kidney (MCDK) is one of the most common congenital abnormalities of the kidney and urinary tract (CAKUT), although its pathophysiology remains unknown. Familial occurrence of MCDK suggests that mutations in genes associated with nephrogenesis are involved in the pathogenesis in at least some cases. Hepatocyte nuclear factor 1β (HNF1β) is a member of the homeodomain-containing super family of transcription factors, and is known to regulate tissue-specific gene expression in a number of organs including the kidneys, pancreas and liver. It has been recently postulated to be associated with CAKUT, including MCDK. We recently encountered a family with a deletion mutant of HNF1β, of which the 2nd son, the proband, developed bilateral MCDK resulting in renal loss of function in infancy while the 1st son developed unilateral MCDK. Their father has two normal kidneys. This family confirmed that mutations in the HNF1β gene are strongly associated with the development of MCDK. Furthermore, the fact that no clear phenotype-genotype correlation exists suggests that gene(s) other than HNF1β are also involved in nephrogenesis and the development of MCDK.

Prenatal diagnosis of fetal multicystic dysplastic kidney in the era of three-dimensional ultrasound: 10-year experience

ObjectiveTo demonstrate the usefulness of three-dimensional (3D) ultrasound in prenatal diagnosis of fetal multicystic dysplastic kidney (MCDK) disease. MethodsIn our previous study, we demonstrated that using 3D ultrasound in conjunction with traditional two-dimensional (2D) ultrasound can facilitate the diagnosis of MCDK. In this study, we followed all the MCDK cases diagnosed in our center in the recent decade (from 2002 to 2011) and compared the results with the data collected in the prior decade (from 1995 to 2002). ResultsBetween 2002 and 2011, a total of 39 cases with fetal MCDK diagnosed by 2D and 3D ultrasound were retrospectively analyzed. The average gestational age when the diagnosis of MCDK was made was 23.6 weeks of gestation (95% confidence interval: 22.09–25.09). The Pearson chi-square test revealed a borderline nonsignificant difference statistically in the categorized gestational age at diagnosis (p = 0.052) as compared to the gestational age in the prior study. The average amniotic fluid index in fetuses with unilateral and bilateral MCDK was 16.76 ± 3.34 and 4.78 ± 5.82, respectively (p < 0.001). MCDK was not found to be associated with gestational age or chromosomal anomalies in our study. ConclusionThe surface-rendering mode of 3D ultrasound is very useful in prenatal diagnosis and counseling for MCDK.

17q12 Deletion in a patient with Williams syndrome: Case report and review of the literature.

Williams syndrome (WS) is a complex genomic disorder entailing distinctive facial dysmorphism, cardiovascular abnormalities, intellectual disabilities, unusual behavioral features, and a specific cognitive profile with considerable variability. Additional symptoms include endocrine abnormalities, renal anomalies and connective tissue disorders. We report a monozygotic twin patient with WS who presented with multicystic kidneys in the newborn period, and, in addition to the typical WS deletion at 7q11.23, was found to have a de novo 1.7 Mb deletion in the 17q12 region on microarray comparative genomic hybridization. The co-twin was selectively terminated at 23 wk of gestation after being diagnosed with bilateral multicystic dysplastic kidneys and anhydramnios. Review of the literature shows that deletion of chromosome 17q12, encompassing hepatocyte nuclear factor 1beta gene, is associated with cystic renal disease and is the first recurrent genomic deletion associated with maturity onset diabetes of the young. In addition, reports of female reproductive tract malformations and patients with neurocognitive or psychiatric phenotypes have recently been described. This review of the literature summarizes 47 other cases involving 17q12 deletions with wide variability in phenotype, possibly suggesting a contiguous gene syndrome. It is likely that the additional 17q12 deletion has played a role in modifying the phenotype in our patient. This case highlights the importance of using array comparative genomic hybridization in the clinical setting to uncover the etiology of atypical findings in individuals with known microdeletion syndromes.

Unique phenotype in a patient with CHARGE syndrome

CHARGE is a phenotypically heterogeneous autosomal dominant disorder recognized as a cohesive syndrome since the identification of CHD7 as a genetic etiology. Classic features include: Coloboma, Heart defects, Atresia choanae, Retarded growth and development, Genitourinary abnormalities, and Ear anomalies and/or deafness. With greater accessibility to genetic analysis, a wider spectrum of features are emerging, and overlap with disorders such as DiGeorge syndrome, Kallmann syndrome, and Hypoparathyroidism Sensorineural Deafness and Renal Disease syndrome, is increasingly evident. We present a patient with a unique manifestation of CHARGE syndrome, including primary hypoparathyroidism and a limb anomaly; to our knowledge, he is also the first CHARGE subject reported with bilateral multicystic dysplastic kidneys. Furthermore, with structural modeling and murine expression studies, we characterize a putative CHD7 G744S missense mutation. Our report continues to expand the CHARGE phenotype and highlights that stringent fulfillment of conventional criteria should not strictly guide genetic analysis.

Extra-renal anomalies associated with fetal renal dysgenesis

Objective: The purpose of this study is to evaluate other anomalies associated with the fetal renal dysgenesis and prognosis. Methods: Level II sonography were reviewed in the pregnant women who had been diagnosed with fetal renal dysgenesis antenatally from March 1998 to February 2005. Diagnosis was comfirmed by the autopsy or the postnatal studies including sonographic and radiologic evaluation. Results: Thirty fetuses had a fetal renal dysgenesis. There were 2 cases of polycystic kidney, 4 cases of bilateral renal agenesis, 4 cases of unilateral renal agenesis, 3 cases of bilateral multicystic dysplastic kidney and 17 cases of unilateral multicystic dysplastic kidney. The common associated anomalies were congenital heart disease (7 cases), single umbilical artery (5 cases), imperforate anus (2 cases) and tracheo-esophageal fistula (2 cases). Hypospadia and scoliosis with hemivertebra were also noted. Conclusion: The most common anomaly associated with renal dysgenesis was congenital heart diseases. If fetal renal dysgenesis is detected antenatally, fetal echocardiography should be performed.

Laparoscopic Revision of a Malfunctioning Peritoneal Dialysis Catheter in an Infant: A Hard Case

PURPOSE This video shows the laparoscopic management of a malfunctioning Tenckhoff peritoneal dialysis catheter and the release of extensive intraperitoneal adhesions in 5 months old and 4200 grams male infant. MATERIAL AND METHODS The baby was on continuous ambulatory peritoneal dialysis program since the first month of life due to bilateral multicystic dysplastic kidney disease and his history had: peritonitis twice; Tenckhoff catheter replacement once and repositioning twice; omentectomy; hydrocelectomy and inguinal hernia repair. 15 days old Tenckhoff catheter was obstructed and the blood K+ was 6.1 mEq/ml. So, it was decided to salvage the Tenckhoff catheter laparoscopically. RESULTS A laparoscope was introduced with open port technique and extensive peritoneal adhesions were seen and the Tenckhoff catheter was also enveloped by fibrotic tissue and wrapped by the colon tightly. Intraperitoneal adhesions were freed, the colon was unwrapped and the catheter was taken out the fibrous sheath. After achieving correct outflow, Tenckhoff catheter was repositioned. Intraperitoneum was irrigated with antibiotics and heparin. Total operative time was 1 hour by 2 ports and the patient returned to peritoneal dialysis 8 hours from the operation. CONCLUSIONS Laparoscopy, for which previous abdominal surgery and intraperitoneal adhesions are accepted as relative contraindications, could be performed successfully by open port technique in a 4200 gr. infant with extensive intraperitoneal adhesions. This procedure should be accepted as lifesaving by the advantage of immediate return of the peritoneal dialysis.

Magnetic resonance imaging diagnosis of severe fetal renal anomalies

The purpose of this study was to describe magnetic resonance imaging (MRI) findings in fetuses with severe renal anomalies. This was a case-control study that compared MRI findings in fetuses with suspected severe renal anomalies with gestational age-matched control fetuses. MRI was performed with T2-weighted single-shot fast-spin echo sequences. Each MRI was reviewed by an investigator who was blinded to clinical information. There were 2 cases of bilateral renal agenesis, 2 cases if bilateral multicystic dysplastic kidney disease, 2 cases if unilateral renal agenesis and contralateral multicystic dysplastic kidney disease, 2 cases if polycystic kidney disease, and 2 cases of early membrane rupture/normal kidneys. Fetuses with lethal renal anomalies had a characteristic bladder appearance (signal void [dark]), whereas control fetuses had bright signal in both bladder and renal pelvis (P < .001). Both cases of early membrane rupture/normal kidneys had bright bladder signal, but 1 case did not have bright signal in the renal pelvis. Fetuses with lethal renal anomalies had signal void in the bladder region on MRI.