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Kidney renal hypoplasia dysplasia

Rodrigo Ruano, Timothy Dunn, Michael C Braun, Joseph R Angelo, Adnan Safdar
The authors present an overview of lower urinary tract obstruction (LUTO) in the fetus with a particular focus on the insult to the developing renal system. Diagnostic criteria along with the challenges in estimating long-term prognosis are reviewed. A proposed prenatal LUTO disease severity classification to guide management decisions with fetal intervention to maintain or salvage in utero and neonatal pulmonary and renal function is also discussed. Stage I LUTO (mild form) is characterized by normal amniotic fluid index after 18 weeks, normal kidney echogenicity, no renal cortical cysts, no evidence of renal dysplasia, and favorable urinary biochemistries when sampled between 18 and 30 weeks; prenatal surveillance is recommended...
July 21, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
Jason Misurac
Neonatal chronic kidney disease (CKD) occurs with an estimated incidence of 1 in 10,000 live births, whereas the incidence of neonatal end-stage renal disease (ESRD) is about 7.1 per million age-related population. The most frequent etiologies are renal hypoplasia/dysplasia, posterior urethral valves, and other congenital anomalies of the kidney and urinary tract. Other etiologies include polycystic kidney disease, cortical necrosis, and renal vascular thrombosis. Management of CKD focuses primarily on replacing renal functions such as erythropoietin, 1,25-hydroxylation of vitamin D, electrolyte homeostasis/excretion, and, in ESRD, waste product removal...
October 9, 2016: Seminars in Fetal & Neonatal Medicine
Hélène Duval, Laurence Michel-Calemard, Marie Gonzales, Philippe Loget, Claire Beneteau, Annie Buenerd, Madeleine Joubert, Marielee Denis-Musquer, Alix Clemenson, Anne-Laure Chesnais, Sophie Blesson, Isabelle De Pinieux, Anne-Lise Delezoide, Gheorghe Bonyhay, Christine Bellanné-Chantelot, Laurence Heidet, Florence Dupré, Sophie Collardeau-Frachon
OBJECTIVES: To describe macroscopic and microscopic anomalies present in fetuses carrying hepatocyte nuclear factor-1 β mutation, their frequency, and genotype/phenotype correlations. METHODS: Clinical data, ultrasound findings, genetic studies, and autopsy reports of 20 fetal autopsies were analyzed. Histology was reviewed by two pathologists. RESULTS: Macroscopic findings were typically unilateral or bilateral renal enlargement and cortical cysts...
August 2016: Prenatal Diagnosis
Sunil Kumar, Shruti Sharma
The agenesis of the Müllerian duct is the second most common cause of primary amenorrhoea after Turner syndrome. The abnormal development of Müllerian duct often associates with the urinary tract and skeletal abnormalities. MURCS (Müllerian duct aplasia-renal agenesis-cervicothoracic somite dysplasia) association is a unique and rare developmental disorder with four common features of uterine hypoplasia or aplasia, renal agenesis or ectopy, vertebral anomalies and short stature. We report a case of young female with primary amenorrhoea...
April 2016: Oxford Medical Case Reports
Artemis G Mitsioni, Ekaterini Siomou, Ioanna Bouba, Stavroula Petridi, Antigoni Siamopoulou, Ioannis Georgiou
BACKGROUND: Primary nonsyndromic vesicoureteral reflux (VUR) and VUR with renal hypoplasia/dysplasia (VUR-RHD) are common congenital anomalies of the kidney and urinary tract (CAKUT). Sequence variations of the ROBO2 gene were investigated in children with nonsyndromic VUR or VUR-RHD. METHODS: Single-strand conformation polymorphism (SSCP) electrophoresis or multiple restriction fragment SSCP (MRF-SSCP), followed occasionally by direct sequencing, was used to screen 103 patients and 200 controls for nucleotide changes...
July 2016: Pediatric Research
Herman S Bagga, Songhua Lin, Alun Williams, Jesse Schold, Nathan Chertack, David Goldfarb, Hadley Wood
PURPOSE: Improved bladder and renal management benefit patients with congenital uropathy and congenital pediatric kidney disease. This may translate to delayed initial renal transplantation in these patients, and improved graft and patient survival. Our primary study purpose was to determine whether patients with congenital uropathy and congenital pediatric kidney disease have demonstrated later time to first transplantation and/or graft survival. MATERIALS AND METHODS: SRTR (Scientific Registry of Transplant Recipients) was analyzed for first renal transplant and survival data in patients with congenital uropathy and congenital pediatric kidney disease from 1996 to 2012...
April 2016: Journal of Urology
Samuel Nef, Thomas J Neuhaus, Giuseppina Spartà, Marcus Weitz, Kathrin Buder, Josef Wisser, Rita Gobet, Ulrich Willi, Guido F Laube
UNLABELLED: Congenital anomalies of the kidney and urinary tract are common findings on fetal ultrasound. The aim of this prospective observational study was to describe outcome and risk factors in 115 patients born 1995-2001. All prenatally diagnosed children were stratified into low- and high-risk group and followed postnatally clinically and by imaging at defined endpoints. Risk factors were evaluated using odds ratios. Neonatal diagnosis included pelvi-ureteric junction obstruction (n = 33), vesicoureteral reflux (n = 27), solitary mild pelvic dilatation (postnatal anteroposterior diameter 5-10 mm; n = 25), and further diagnosis as primary obstructive megaureter, unilateral multicystic dysplastic kidney, renal dysplasia and posterior urethral valves...
May 2016: European Journal of Pediatrics
Yongping Wang, Arjun Stokes, Zhijian Duan, Jordan Hui, Ying Xu, YiPing Chen, Hong-Wu Chen, Kit Lam, Chengji J Zhou
Hypoplastic and/or cystic kidneys have been found in both LDL receptor-related protein 6 (Lrp6)- and β-catenin-mutant mouse embryos, and these proteins are key molecules for Wnt signaling. However, the underlying mechanisms of Lrp6/β-catenin signaling in renal development and cystic formation remain poorly understood. In this study, we found evidence that diminished cell proliferation and increased apoptosis occur before cystic dysplasia in the renal primordia of Lrp6-deficient mouse embryos. The expression of Ret proto-oncogene (Ret), a critical receptor for the growth factor glial cell line-derived neurotrophic factor (GDNF), which is required for early nephrogenesis, was dramatically diminished in the mutant renal primordia...
February 2016: Journal of the American Society of Nephrology: JASN
Saeid Aslanabadi, Sina Zarrintan, Habib Abdollahi, Reza Rikhtegar, Samad Beheshtirouy, Davoud Badebarin, Mohamed A Baky Fahmy
Aphallia or penile agenesis is an extremely rare congenital anomaly with an estimated incidence rate of 1 in 10 to 30 million births. We report a rare case of aphallia with right kidney hypoplasia and left kidney dysplasia in a 10-day old Iranian-Azeri male. The patient had creatinine rise and renal failure due to dysplastic left kidney and hypoplastic right kidney and expired on fifth day of admission. There were only six cases of renal malformation associated with aphallia in the literature review. Three of the cases were complicated by Potter sequence and one of them was accompanied by chronic renal failure...
April 2015: Archives of Iranian Medicine
Rui-Yun Chen, Han Chang
Renal dysplasia is an aberrant developmental disease usually diagnosed during the perinatal and childhood years. Prevalence is estimated at 0.1% of infants (via ultrasound screening) and 4% of fetuses and infants (via autopsy study). Occurrences may be combined with abnormalities in the collecting system or associated with complex syndromes. Histopathology shows primitive tubules surrounded by a fibromuscular collar. The differential diagnosis includes renal dysplasia, hypoplasia, and renal atrophy. Immunohistochemical expression of the paired box genes 2 and 8 (PAX2/8) and Wilms tumor 1 (WT1) is increased in the primitive ducts and fibromuscular collar, respectively...
April 2015: Archives of Pathology & Laboratory Medicine
Michel G Arsenault, Yuan Miao, Kathleen Jones, David Sims, Jonathan Spears, Glenda M Wright, Sunny Hartwig
Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) are a polymorphic group of clinical disorders comprising the major cause of renal failure in children. Included within CAKUT is a wide spectrum of developmental malformations ranging from renal agenesis, renal hypoplasia and renal dysplasia (maldifferentiation of renal tissue), each characterized by varying deficits in nephron number. First presented in the Brenner Hypothesis, low congenital nephron endowment is becoming recognized as an antecedent cause of adult-onset hypertension, a leading cause of coronary heart disease, stroke, and renal failure in North America...
2014: Canadian Journal of Kidney Health and Disease
Iftikhar A R Khan, Mohammad Al-Maghrabi, Mohammad Salah Kassim, Mansour Tawfeeq, Faisal Al-Saif, Ibrahim Al-Oraifi, Mohammed Al-Qahtani, Mohammad Alsaghier
The success of a pediatric kidney transplantation program can only be judged by reviewing its results. We aim to audit our short-term outcome of pediatric kidney transplantation at the King Fahad Specialist Hospital-Dammam. A retrospective chart review was performed to collect data about recipient demographics, etiology of end-stage kidney disease, type of dialysis, type of donor and outcome. Between September 2008 and April 2012, 35 pediatric kidney trans-plantations (<16 year) were performed of a total of 246 kidney transplants (14...
July 2014: Saudi Journal of Kidney Diseases and Transplantation
Çağla Serpil Doğan, Meral Torun-Bayram, Mustafa Devran Aybar
This study was performed to evaluate the clinical course and renal outcome of patients with unilateral multicystic dysplastic kidney (MCDK). We retrospectively reviewed the medical records of 59 cases with MCDK followed at Şanlıurfa Children's Hospital between January 2009 and February 2013. The median age of the patients (boys 52.5%) was 31 months (range: 6-197) and the median follow-up period was 23 months (range: 6-111). Forty-two (71.2%) patients were diagnosed antenatally. The MCDKs were found more often on the right side (55...
January 2014: Turkish Journal of Pediatrics
Camille Humbert, Flora Silbermann, Bharti Morar, Mélanie Parisot, Mohammed Zarhrate, Cécile Masson, Frédéric Tores, Patricia Blanchet, Marie-José Perez, Yuliya Petrov, Philippe Khau Van Kien, Joelle Roume, Brigitte Leroy, Olivier Gribouval, Luba Kalaydjieva, Laurence Heidet, Rémi Salomon, Corinne Antignac, Alexandre Benmerah, Sophie Saunier, Cécile Jeanpierre
Renal hypodysplasia (RHD) is a heterogeneous condition encompassing a spectrum of kidney development defects including renal agenesis, hypoplasia, and (cystic) dysplasia. Heterozygous mutations of several genes have been identified as genetic causes of RHD with various severity. However, these genes and mutations are not associated with bilateral renal agenesis, except for RET mutations, which could be involved in a few cases. The pathophysiological mechanisms leading to total absence of kidney development thus remain largely elusive...
February 6, 2014: American Journal of Human Genetics
Dario Musone, Valentina Nicosia, Riccardo D'Alessandro, Antonio Treglia, Giuseppe Saltarelli, Maurizio Montella, Alessandro Sparagna, Francesco Amoroso
Prune belly syndrome (PBS) is a rare congenital syndrome characterized by hypoplasia of the abdominal muscles, urinary tract malformations, and cryptorchidism in males. The estimated incidence is 1 in 35,000 to 50,000 live births. Chronic renal failure and end-stage renal disease (ESRD), due both to different degrees of renal hypoplasia or dysplasia and infectious complications, develops in 20-30% of patients who survive the neonatal period. No data are available on progression time to ESRD, owing to the variability of the phenotypic features of nephropathy...
July 2013: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
Delphine Body-Bechou, Philippe Loget, Dominique D'Herve, Bernard Le Fiblec, Anne-Gaelle Grebille, Hélène Le Guern, Caroline Labarthe, Margaret Redpath, Anne-Sophie Cabaret-Dufour, Odent Sylvie, Alice Fievet, Corinne Antignac, Laurence Heidet, Sophie Taque, Poulain Patrice
OBJECTIVE: The aim of this study was to document the association between pancreatic agenesis or hypoplasia and multicystic renal dysplasia related to transcription factor 2 (TCF2) or hepatocyte nuclear factor 1 beta mutations. METHODOLOGY: We describe the phenotype of the pancreas and the kidneys from three fetuses heterozygous for a mutation of TCF2. CASES: Case 1 had bilateral hyperechogenic, multicystic kidneys, bilateral clubfoot and pancreatic agenesis...
January 2014: Prenatal Diagnosis
S K Wang, B M Reid, S L Dugan, J A Roggenbuck, L Read, P Aref, A P H Taheri, M Z Yeganeh, J P Simmer, J C-C Hu
We identified two families with an autosomal-recessive disorder manifested by severe enamel hypoplasia, delayed and failed tooth eruption, misshapen teeth, intrapulpal calcifications, and localized gingival hyperplasia. Genetic analyses identified novel FAM20A mutations associated with the disease phenotype in both families. The proband of Family 1 had an altered splice junction in Intron 1 (g.502011G>C; c.405-1G>C) and a missense mutation in Exon 8 (g.65094G>A; c.1207G>A; p.D403N). The missense mutation is notable because D(403) is strictly conserved among FAM20A homologues, and the corresponding defect in FAM20C caused osteosclerotic bone dysplasia and a loss of kinase activity...
January 2014: Journal of Dental Research
Jan Halbritter, Albane A Bizet, Miriam Schmidts, Jonathan D Porath, Daniela A Braun, Heon Yung Gee, Aideen M McInerney-Leo, Pauline Krug, Emilie Filhol, Erica E Davis, Rannar Airik, Peter G Czarnecki, Anna M Lehman, Peter Trnka, Patrick Nitschké, Christine Bole-Feysot, Markus Schueler, Bertrand Knebelmann, Stéphane Burtey, Attila J Szabó, Kálmán Tory, Paul J Leo, Brooke Gardiner, Fiona A McKenzie, Andreas Zankl, Matthew A Brown, Jane L Hartley, Eamonn R Maher, Chunmei Li, Michel R Leroux, Peter J Scambler, Shing H Zhan, Steven J Jones, Hülya Kayserili, Beyhan Tuysuz, Khemchand N Moorani, Alexandru Constantinescu, Ian D Krantz, Bernard S Kaplan, Jagesh V Shah, Toby W Hurd, Dan Doherty, Nicholas Katsanis, Emma L Duncan, Edgar A Otto, Philip L Beales, Hannah M Mitchison, Sophie Saunier, Friedhelm Hildebrandt
Intraflagellar transport (IFT) depends on two evolutionarily conserved modules, subcomplexes A (IFT-A) and B (IFT-B), to drive ciliary assembly and maintenance. All six IFT-A components and their motor protein, DYNC2H1, have been linked to human skeletal ciliopathies, including asphyxiating thoracic dystrophy (ATD; also known as Jeune syndrome), Sensenbrenner syndrome, and Mainzer-Saldino syndrome (MZSDS). Conversely, the 14 subunits in the IFT-B module, with the exception of IFT80, have unknown roles in human disease...
November 7, 2013: American Journal of Human Genetics
Samir El-Dahr, Sylvia Hilliard, Karam Aboudehen, Zubaida Saifudeen
The molecular basis of nephron progenitor cell renewal and differentiation into nascent epithelial nephrons is an area of intense investigation. Defects in these early stages of nephrogenesis lead to renal hypoplasia, and eventually hypertension and chronic kidney disease. Terminal nephron differentiation, the process by which renal epithelial precursor cells exit the cell cycle and acquire physiological functions is equally important. Failure of terminal epithelial cell differentiation results in renal dysplasia and cystogenesis...
April 2014: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
Arnaud Molin, Guillaume Benoist, Corinne Jeanne-Pasquier, Nadia Elkartoufi, Julie Litzer, Matthieu Decamp, Nicolas Gruchy, Marion Durand-Malbruny, Marianne Begorre, Tania Attie-Bitach, Nathalie Leporrier
We report on a fetus with Meckel syndrome diagnosed during the 21st gestational week, hydrocephalus and bilateral hyperechogenic kidneys were then detected on ultrasonography. Fetal pathological examination showed facial dysmorphism, occipital meningoencephalocele, characteristic renal cysts, mild hepatic ductal dysplasia, hydrocephalus in association with extreme cerebellar vermis hypoplasia and brainstem anomalies. Molecular and cytogenetic analysis identified a paternally inherited CEP290/MKS4 (MIM611134) (12q21) nonsense mutation and a maternal 12q21 microdeletion...
October 2013: European Journal of Medical Genetics
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