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Pediatr Nephrol 2022 Jun 17. Epub 2022 Jun 17.

Pediatric Nephrology, Dialysis and Transplant Unit. Fondazione Ca' Granda IRCCS, Policlinico Di Milano, Milano, Italy.

Background: In recent years, several studies have been published on the prognosis of children with congenital solitary kidney (CSK), with controversial results, and a worldwide consensus on management and follow-up is lacking. In this consensus statement, the Italian Society of Pediatric Nephrology summarizes the current knowledge on CSK and presents recommendations for its management, including diagnostic approach, nutritional and lifestyle habits, and follow-up. We recommend that any antenatal suspicion/diagnosis of CSK be confirmed by neonatal ultrasound (US), avoiding the routine use of further imaging if no other anomalies of kidney/urinary tract are detected. Read More

BMJ Case Rep 2022 May 19;15(5). Epub 2022 May 19.

Radiodiagnosis, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India

We present a case of Zinner syndrome (ZS), where we were fortunate to diagnose a child with this rare syndrome immediately after birth. Gross hydronephrosis was observed during the prenatal period on ultrasound, and further imaging after birth confirmed the presence of a multicystic dysplastic kidney and seminal vesicle cyst. The majority of cases of ZS is asymptomatic; however, symptoms relating to urination, ejaculation or infertility may present later on in life and so regular follow-up is required to ensure interventions can be carried out if such symptoms do occur. Read More

BMJ Case Rep 2022 May 11;15(5). Epub 2022 May 11.

Pediatric Surgery, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

Renal parapelvic cysts (RPC) have an incidence of approximately 1%-3% in the general population. However, they rarely present in children with only two cases reported in literature. RPC are often misdiagnosed as it is difficult to distinguish them from hydronephrosis on preoperative imaging. Read More

Prenat Diagn 2022 06 5;42(7):894-900. Epub 2022 May 5.

Department of Obstetrics and Gynecology, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.

Objectives: This retrospective study aimed to investigate the correlations between phenotypes of fetal renal abnormalities on prenatal ultrasound and genetic aetiologies detected using chromosomal microarray analysis (CMA) and whole-exome sequencing (WES).

Methods: Fetuses with renal abnormalities were subjected to CMA and were further analysed by WES when CMA-negative. The detection rates for chromosomal abnormalities and monogenic variants among different types of isolated renal abnormalities and those with extrarenal abnormalities (non-isolated cases) were determined and compared. Read More

J Investig Med High Impact Case Rep 2022 Jan-Dec;10:23247096221089495

Uniformed Services University of the Health Sciences, Bethesda, MD, USA.

Renal trauma occurring in patients with unilateral renal cystic disease (URCD) is extremely rare. Unilateral renal cystic disease is benign, nonprogressive, nonfamilial, nonencapsulated, and unrelated to cysts in other organs. It should be differentiated from autosomal dominant polycystic kidney disease (ADPKD) parenthesis, multicystic dysplastic kidney disease, multiple renal simple cysts, and cystic renal neoplasms. Read More

Pediatr Nephrol 2022 Mar 25. Epub 2022 Mar 25.

Department of Pediatrics, MacKay Children's Hospital, No 92, Section 2, Chungshan North Road, Taipei, Taiwan.

Background: Zinner syndrome (ZS), the association of congenital seminal vesicle cyst (SVC) and ipsilateral kidney anomalies, is rarely diagnosed in childhood. This study aimed to assess presentation, imaging findings, management, and outcome of pediatric ZS.

Methods: Sixteen children with ZS were diagnosed and managed at our hospital from 2003 to 2021. Read More

Radiol Case Rep 2022 May 10;17(5):1573-1578. Epub 2022 Mar 10.

Department of Radiodiagnosis, Atal Bihari Vajpayee Institute of Medical Sciences and Dr. Ram Manohar Lohia Hospital, New Delhi 110001, India.

Twin reversed arterial perfusion syndrome is a rare obstetric condition that occurs in monochorionic twin pregnancies, resulting in coexistence of a normal "pump" twin and an acardiac twin. The acardiac twin is dependent upon the normal twin to provide circulation by means of vascular anastomosis, thereby putting the pump fetus at risk of high output cardiac failure. Overall only 50% of pump twins survive. Read More

Diagnostics (Basel) 2021 Dec 30;12(1). Epub 2021 Dec 30.

Department of Obstetrics and Gynecology, Seoul Asan Medical Center, University of Ulsan College of Medicine, 88, Olympic-ro 43-gil, Songpa-gu, Seoul 05505, Korea.

The aim of this study was to present a new case of congenital Herlyn-Werner-Wunderlich syndrome, a rare anomaly of the female reproductive tract, and review the related literature. A 12-year-old girl presented with severe dysmenorrhea since menarche and magnetic resonance imaging showing a bicornuate uterus, double cervix, right hematometra, and hematosalpinx with ipsilateral renal agenesis, accompanied by a remnant distal ureter with hydroureter. A diagnostic cystoscopy and a reduced-port robot-assisted laparoscopy with chromopertubation were performed in order to identify the anomaly. Read More

Ultrasound 2021 Nov 17;29(4):241-251. Epub 2021 Feb 17.

KK Women's and Children's Hospital Singapore, Kampong Java, Singapore.

Ultrasound is used commonly to detect and diagnose intra-abdominal and pelvic cystic masses in the newborn as it is easily available, relatively low cost, and non-invasive. The diagnosis can be made or narrowed down by determining the location, size, sonographic features, organ involvement, and internal vascularity. The differential diagnoses include hydronephrosis, multicystic dysplastic kidney, adrenal haemorrhage, cystic teratomas, ovarian cysts, enteric cysts, meconium cysts, and liver haemangiomas. Read More

Fetal Pediatr Pathol 2021 Oct 23:1-10. Epub 2021 Oct 23.

Division of Prenatal Medicine, Department of Gynecology and Obstetrics, University Hospital of Schleswig-Holstein, Luebeck, Germany.

Background: Congenital multisystemic lesions with co-occurrence of non-random malformations, such as VACTERL-H or MURCS association, often pose serious threads to the newborn and still constitute an antenatal diagnostic dilemma.

Case Report: A malformed fetus with VACTERL-H association at 20 gestational weeks had a skin-covered neural tube defect (NTD) of the lower cervical spine, concomitant hydrocephalus, as well as unilateral multicystic dysplastic kidney and the suspicion of mullerian duct anomaly as potentially assigned to MURCS association.

Discussion/conclusion: We were able to demonstrate how well-defined, standardized volumetric reconstruction of diagnostic views displaying fetal pathology might aid early and precise diagnosis of multi-organ malformations. Read More

Pediatr Dev Pathol 2022 Mar-Apr;25(2):180-185. Epub 2021 Sep 22.

Institute of Pathology, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon, Université Claude Bernard Lyon 1, Lyon, France.

Encephalocraniocutaneous lipomatosis (ECCL) or Haberland syndrome (MIM #613001) is a rare congenital neurocutaneous disorder. It is characterized by unilateral ocular, cutaneous and central nervous system anomalies. Key clinical features include hairless fatty tissue nevus of the scalp, choristoma of the eye and intraspinal and intracerebral lipomas. Read More

Am J Obstet Gynecol 2021 11 8;225(5):B21-B22. Epub 2021 Sep 8.

Pediatr Int 2021 Oct 14;63(10):1254-1256. Epub 2021 Jul 14.

Department of Pediatrics, Alvaro Cunqueiro University Hospital, Vigo, Spain.

Pediatrics 2021 08 6;148(2). Epub 2021 Jul 6.

Division of Nephrology and.

Background And Objectives: Children with isolated unilateral multicystic dysplastic kidney (MCDK) or congenital solitary kidney (CSK) undergo serial renal ultrasonography with variable frequency until they are transitioned to adult care. A growing body of literature suggests the value of frequent ultrasonography in this population is limited, providing no benefit to overall outcomes. Despite emerging evidence, ultrasound remains overused, resulting in avoidable health care expenditures and unnecessary use of resources. Read More

J Pediatr Urol 2021 Oct 10;17(5):652.e1-652.e7. Epub 2021 Jun 10.

Department of Obstetrics and Gynecology, Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea; Institute of Women's Life Science, Yonsei University College of Medicine, Seoul, South Korea. Electronic address:

Background: Obstructive hemivagina with ipsilateral renal anomaly (OHVIRA) syndrome is a rare, complex congenital anomaly with an unknown prevalence. However, case reports and small studies on OHVIRA syndrome have increased rapidly in the last 20 years, which may be related to increased use of imaging, surgical techniques, and prenatal sonography.

Objective: This study aimed to analyze and compare patients with OHVIRA syndrome diagnosed in the prepubertal and postpubertal periods to understand the disease characteristics and improve clinical management. Read More

Ultrasound Obstet Gynecol 2022 Feb;59(2):226-233

Department of Genetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Guangxi Birth Defects Prevention and Control Institute, Nanning, China.

Objectives: To assess the clinical utility of prenatal chromosomal microarray analysis (CMA) in fetuses with abnormal renal sonographic findings, and to evaluate the association of pathogenic or likely pathogenic copy number variants (P/LP CNVs) with different types of renal abnormality.

Methods: This was a retrospective study of fetuses at 14-36 weeks screened routinely for renal and other structural abnormalities at the Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region. We retrieved and analyzed data from fetuses with abnormal renal sonographic findings, examined between January 2013 and November 2019, which underwent CMA analysis using tissue obtained from chorionic villus sampling (CVS), amniocentesis or cordocentesis. Read More

J Laparoendosc Adv Surg Tech A 2021 Jul 27;31(7):843-848. Epub 2021 May 27.

Division of Pediatric Surgery, Department of Surgery, Taichung Veterans General Hospital, Taichung, Taiwan, Republic of China.

Success rate of laparoscopic pyeloplasty for ureteropelvic junction obstruction (UPJO) in children is comparable with open pyeloplasty. Prolonged ileus and injury to adjacent viscera more often occurred in transperitoneal approach; however, longer operation time is noted in retroperitoneal approach. This study presented a hybrid retroperitoneoscopic pyeloplasty (HRP), for congenital UPJO in infants weighing <10 kg. Read More

Early Hum Dev 2021 06 4;157:105382. Epub 2021 May 4.

Department of Paediatric Surgery and Urology, Chelsea and Westminster Hospital NHS Foundation Trust, 369 Fulham Road, London SW10 9NH, UK; Centre for Fetal Care, Queen Charlotte's and Chelsea Hospital, Imperial College Healthcare NHS Trust, Du Cane Road, London W12 0HS, UK. Electronic address:

Background: The majority of simple renal cysts diagnosed postnatally are asymptomatic and rarely require treatment unless they become symptomatic or complex. We hypothesised that prenatally-detected simple renal cysts would have a similar harmless outcome.

Aims: To establish the natural history and postnatal outcome of prenatally-diagnosed simple renal cysts. Read More

Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2021 Apr 23;42(1):77-81. Epub 2021 Apr 23.

University Children's Hospital, Medical Faculty Skopje, RN Macedonia.

Multicystic dysplastic kidney is a rare congenital anomaly of the kidney and urinary tract. The association with the posterior urethral valve is also very rare. Here we present a patient with both entities and prenatal resolution of the cysts. Read More

BMJ Case Rep 2021 Apr 8;14(4). Epub 2021 Apr 8.

Radiodiagnosis, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India

We report a rare case of non-fused renal ectopia with pelviureteric junction obstruction and multiple pelvic and renal calculi thereby discussing vascular anatomy of the non-fused ectopic kidney along with robot assisted surgical management of this rare clinical entity which amounts for good preoperative workup for best surgical and clinical outcome. Read More

Urology 2021 11 2;157:42-43. Epub 2021 Apr 2.

Division of Pediatric Urology, Department of Surgery, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada. Electronic address:

We present a clinical imaging question focusing on a newborn with known prenatal history of a multicystic dysplastic kidney, and incidental ipsilateral retrovesical seminal vesical cysts, raising the diagnosis of Zinner syndrome. The diagnosis is challenging in this age group. Surgical management is generally proposed for symptomatic cases at an older age. Read More

BMC Nephrol 2021 02 5;22(1):55. Epub 2021 Feb 5.

Department of Pediatrics, Kindai University Faculty of Medicine, 377-2 Ohno-higashi, Osakasayama-shi, Osaka, 589-8511, Japan.

Background: The association of hypertension with congenital renal hypoplasia has been established. We report a case of an infant who underwent nephrectomy for hypertension.

Case Presentation: Magnetic resonance imaging for the mother revealed fetal renal masses, and fetal multicystic dysplastic kidney was suspected. Read More

Turk J Med Sci 2021 06 28;51(3):1331-1337. Epub 2021 Jun 28.

Department of Pediatric Nephrology, İzmir Tepecik Training and Research Hospital, İzmir, Turkey

Background/aim: The objective of this study is to determine the clinical features of unilateral multicystic dysplastic kidney (MCDK) patients.

Materials And Methods: The demographic, clinical, laboratory, and radiologic features of MCDK patients at Diyarbakır Children’s Hospital and Diyarbakır Gazi Yaşargil Training and Research Hospital between January 2008-June 2019 were retrospectively evaluated.

Results: A total of 111 [59 (53. Read More

J Obstet Gynaecol 2021 Oct 16;41(7):1071-1075. Epub 2021 Jan 16.

Department of Urology, Pediatric Urology Unit, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.

We reviewed the records of 144 patients. The mean gestational age at first US diagnosis was 27.5 ± 4. Read More

J Ultrasound Med 2021 Oct 22;40(10):2165-2171. Epub 2020 Dec 22.

Department of Obstetrics and Gynecology, Chaim Sheba Medical Center, Tel Hashomer, Israel.

Objectives: To assess the prenatal growth pattern of the normal kidney contralateral to a multicystic dysplastic kidney (MCDK).

Methods: A retrospective study was conducted in a single referral center over 4 years. Cases diagnosed prenatally as MCDK and confirmed postnatally constituted the study group. Read More

Pak J Biol Sci 2020 Jan;23(12):1614-1620

Background And Objective: The Kingdom of Saudi Arabia (KSA) has a high population of children with hereditary renal infections whose factors are linked to the X chromosomes. This study aims to determine the spectrum of renal pathologies in Saudi pediatrics patients as well as to link the genetic aspect to the development of renal diseases in Saudi children by using ultrasound.

Materials And Methods: The study, hence sought to analyze the outcomes of a cross-sectional retrospective study report at the Radiology department of King Fahad Medical City (KFMC) within 12 months retrogressively. Read More

Pediatr Radiol 2020 12 30;50(13):1921-1933. Epub 2020 Nov 30.

Colorado Fetal Care Center, Children's Hospital Colorado, Aurora, CO, USA.

With the advent of routine prenatal imaging, the number of renal anomalies identified prenatally has significantly increased; however, the underlying etiologies of these anomalies and the clinical significance of these findings remains unclear. This confusion is especially true for the prenatal diagnosis of cystic renal changes. The terms "cystic kidney disease" and "renal cystic dysplasia" encompass myriad renal diseases. Read More

Mol Genet Genomic Med 2020 11 2;8(11):e1486. Epub 2020 Sep 2.

Schulich School of Medicine and Dentistry, University of Western Ontario, London, ON, Canada.

Background: Ectrodactyly-ectodermal dysplasia-clefting syndrome 3 (EEC) is one of the six overlapping syndromes caused by mutations in the tumor protein p63 gene (TP63). EEC is suspected when patients have cleft hands or feet, polydactyly, and syndactyly, abnormal development of the ectodermally derived structures, and orofacial clefting. Genitourinary (GU) anomalies have been identified in patients with EEC, yet these are often under-recognized and under-reported. Read More

Front Pediatr 2020 28;8:423. Epub 2020 Jul 28.

Department of Urology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

To investigate the perceptions, attitudes, and treatment selection of Chinese pediatric urologists and pediatric surgeons regarding a "watch and wait" strategy for multicystic dysplastic kidney (MCDK). We used a cross-sectional survey in this study. We sent the questionnaire to pediatric urologists and pediatric surgeons to capture their views via the "Questionnaire Star" online survey platform between November and December 2019. Read More

Nucl Med Rev Cent East Eur 2020 ;23(1):47-48

Nuclear Medicine Research Center, Mashhad University of Medical Sciences, Mashhad, Iran..

The multicystic dysplastic pattern in a half of a horseshoe kidney is a very uncommon presentation. We present a 6-month-old male infant with a history of antenatally unilateral cystic abnormality in the right kidney which was reevaluated after birth by ultrasonography (US) and 99m Tc-DMSA scintigraphy. The US showed a horseshoe kidney with the multicystic dysplastic area on the right side, which proved to be non-functional on 99m Tc-DMSA scintigraphy. Read More