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Renal hypoplasia

Pierbruno Ricci, Pedro Magalhães, Magdalena Krochmal, Martin Pejchinovski, Erica Daina, Maria Rosa Caruso, Laura Goea, Iwona Belczacka, Giuseppe Remuzzi, Muriel Umbhauer, Jens Drube, Lars Pape, Harald Mischak, Stéphane Decramer, Franz Schaefer, Joost P Schanstra, Silvia Cereghini, Petra Zürbig
Renal Cysts and Diabetes Syndrome (RCAD) is an autosomal dominant disorder caused by mutations in the HNF1B gene encoding for the transcriptional factor hepatocyte nuclear factor-1B. RCAD is characterized as a multi-organ disease, with a broad spectrum of symptoms including kidney abnormalities (renal cysts, renal hypodysplasia, single kidney, horseshoe kidneys, hydronephrosis), early-onset diabetes mellitus, abnormal liver function, pancreatic hypoplasia and genital tract malformations. In the present study, using capillary electrophoresis coupled to mass spectrometry (CE-MS), we investigated the urinary proteome of a pediatric cohort of RCAD patients and different controls to identify peptide biomarkers and obtain further insights into the pathophysiology of this disorder...
February 18, 2019: Scientific Reports
Wendy Jo Svetanoff, Benjamin Zendejas, Farokh R Demehri, Alex Cuenca, Bharath Nath, C Jason Smithers
Introduction: There are no reported survivors of gastroschisis with complete liver herniation. We describe a case report of two patients, one of whom survived. Case #1: The patient was born with gastroschisis and herniation of the entire liver. Along with silo placement, the abdominal fascia was attached to an external traction system for growth. Complete closure was achieved at 5 months. Due to pulmonary hypoplasia, high-frequency ventilation was required. The patient is doing well, on a home ventilator wean, at 20 months...
2019: Case Reports in Surgery
M Nicole Bascur P, M Luisa Ceballos O, Mauricio Farfán U, Iván Gajardo H, Joaquín López C
INTRODUCTION: Congenital anomalies of the kidney and urinary tract are caused by genetic alterations mostly unknown. Mutations in the gene that codes for hepatocyte nuclear factor 1B (HNF1B) are the most frequently described monogenic causes. Data are unknown in Chile and Latin America. OBJECTIVE: To determine the presence of variants of the HNF1B gene in Chilean children with conge nital anomalies of the kidney and/or the urinary tract and their clinical characteristics...
December 2018: Revista Chilena de Pediatría
Yasuko Ohara, Yuko Okada, Tomoko Yamada, Kenji Sugawara, Masayuki Kanatani, Hidenori Fukuoka, Yushi Hirota, Takaki Maeda, Naoya Morisada, Kazumoto Iijima, Wataru Ogawa
We here report phenotypic differences and similarities of monozygotic twins with maturity-onset diabetes of the young type 5 (MODY5) harboring a partial deletion of chromosome 17q12. The proband and her twin sister manifested complete aplasia and marked hypoplasia, respectively, of the body and tail of the pancreas. Whereas both twins exhibited marked hypoplasia of the right kidney and multiple cysts in both kidneys, only the proband's sister showed hydronephrosis in the left kidney. The proband had profound defects in insulin and glucagon secretion as well as mild renal dysfunction, whereas her sister had pronounced renal dysfunction accompanied by mild defects in insulin and glucagon secretion...
January 13, 2019: Journal of Diabetes Investigation
Shuangshuang Dong, Chunyan Wang, Xueping Li, Qian Shen, Xiaoyi Fu, Mingyan Wu, Chengcheng Song, Nan Yang, Yanhua Wu, Hongyan Wang, Li Jin, Hong Xu, Feng Zhang
Congenital anomalies of the kidney and urinary tract (CAKUT) are a wide range of congenital structural renal defects. CAKUT is the leading cause of chronic renal failure and end-stage renal disease in children. Studies in humans and animal models have confirmed the large genetic contribution to CAKUT. The previous evidence suggested that human TBX6 coding mutations might cause CAKUT via gene-dosage insufficiency. However, the potential involvement of TBX6 noncoding mutations in CAKUT remains to be elucidated...
January 2, 2019: Molecular Genetics and Genomics: MGG
Y Nawashiro, K Shiraki, S Yamamoto, K Takizawa, Y Sasada, M Suehiro, K Miura, M Hattori, T Daikoku, M Hisano
BACKGROUND: Cytomegalovirus (CMV) could cause rejection in immunocompromised patients during early post-renal transplant stage. The American Transplant Society guidelines recommend prophylactic therapy with ganciclovir (GCV) for 3 to 6 months to prevent CMV infections in adult renal transplant patients. However, there is no recommended CMV treatment regimen for pediatric patients. MAIN FINDINGS: We performed deceased donor kidney transplant from an anti-CMV antibody-positive donor to an anti-CMV antibody-negative 15-year-old female recipient with end-stage renal disease caused by bilateral renal hypoplasia...
December 2018: Transplantation Proceedings
Elena Galazzi, Paolo Duminuco, Mirella Moro, Fabiana Guizzardi, Nicoletta Marazzi, Alessandro Sartorio, Sabrina Avignone, Marco Bonomi, Luca Persani, Maria Teresa Bonati
Ulnar-mammary syndrome (UMS) is characterized by ulnar defects, and nipple or apocrine gland hypoplasia, caused by TBX3 haploinsufficiency. Signs of hypogonadism were repeatedly reported, but the mechanisms remain elusive. We aim to assess the origin of hypogonadism in two families with UMS. UMS was suspected in two unrelated probands referred to an academic center with delayed puberty because of the evident ulnar ray and breast defects in their parents. Clinical, biochemical and genetic investigations proved the existence of congenital normosmic IHH (nIHH) associated with pituitary hypoplasia in the two probands who were heterozygous for novel TBX3 pathogenic variants...
December 1, 2018: Endocrine Connections
Ruth Wragg, Ewan Brownlee, Andy Robb, Harish Chandran, Marian Knight, Liam McCarthy
AIM: The most common cause of congenital bladder outlet obstruction (BOO) is posterior urethral valves (PUV). Initial treatment requires decompression, but transurethral incision (TUI) or primary diversion is all described. There is no randomized control trial to guide management. This study aims to describe management, circumcision, and UTI rate in a national cohort of PUV boys. METHODS: Boys diagnosed with BOO were recruited (via BAPS CASS) over 1 year with ethics committee approval (ref: 12/SC/0416)...
November 6, 2018: Journal of Pediatric Surgery
Jia Kang, Meng Mao, Ye Zhang, Fang-Fang Ai, Lan Zhu
RATIONALE: Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect (VACTERL) association and Müllerian duct anomalies are rare conditions. We present a rare condition with the co-occurrence of the VACTERL association and Müllerian duct hypoplasia to characterize patients' clinical presentations, outcomes, and treatment. PATIENT CONCERNS: An 11-year-old girl presented to our hospital with severe lower abdominal pain, lower vaginal atresia with enlargement of the upper vagina and a bicornuate uterus with a Y-shaped uterine cavity filled with hematometra on pelvic magnetic resonance imaging...
November 2018: Medicine (Baltimore)
Federico Fontana, Andrea Coppola, Christian Ossola, Alessandro Beneventi, Edoardo Macchi, Carlo Fugazzola
The objective of this study was to describe a case of marked hypoplasia of the right renal vein with drainage into ipsilateral gonadal vein. A 66-year-old man, known for hypertension and previous smoking, underwent an abdominal ultrasound exam, which detected a juxtarenal aortic aneurysm. Computed tomography scan confirmed the presence of the aortic aneurysm; furthermore it showed an abnormal right kidney venous drainage consistent in a dilated and tortuous vein, which originated at the hilar region, heading caudally and joining the right spermatic vein at level of aortic carrefour...
February 2019: Radiology Case Reports
Hui Ji, Su-Zhen Dong
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...
November 2018: European Journal of Radiology
Adel Shalata, Supanun Lauhasurayotin, Zvi Leibovitz, Hongbing Li, Diane Hebert, Santhosh Dhanraj, Yarin Hadid, Mohammed Mahroum, Jacob Bajar, Sandro Egenburg, Ayala Arad, Mordechai Shohat, Sami Haddad, Hassan Bakry, Houtan Moshiri, Stephen W Scherer, Shay Tzur, Yigal Dror
BACKGROUND: Dandy-Walker malformation features agenesis/hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle and enlargement of posterior fossa. Although Dandy-Walker malformation is relatively common and several genes were linked to the syndrome, the genetic cause in the majority of cases is unknown. OBJECTIVE: To identify the mutated gene responsible for Dandy-Walker malformation, kidney disease and bone marrow failure in four patients from two unrelated families...
October 16, 2018: Journal of Medical Genetics
Li Zhang, Shu-Bo Zhai, Leng-Yue Zhao, Yan Zhang, Bai-Chao Sun, Qing-Shan Ma
BACKGROUND: We herein report a 3-year-old boy presented with chronic kidney disease (CKD) due to PAX2 missense mutation (C to G transversion at position 418 in exon 4). CASE PRESENTATION: He attended our clinic with a 3-month history of foamy urine. Upon examination, he had reduced estimated glomerular filtration rate (GFR) and renal atrophy. Genetic investigations revealed that he has inherited a mutated PAX2 gene from his father, who had renal failure at the age of 20...
September 21, 2018: BMC Nephrology
Andrea Accogli, Marcello Scala, Annalisa Calcagno, Raffaele Castello, Annalaura Torella, Francesco Musacchia, Anna M E Allegri, Maria M Mancardi, Mohamad Maghnie, Mariasavina Severino, Vincenzo Nigro, Valeria Capra
THO/TREX (transcription/export) is a conserved eukaryotic complex that plays a crucial role in gene expression and prevents DNA damage during mitosis and meiosis. In mammals, TREX is essential during embryogenesis, determining stem cell fate specification by regulating posttranscriptional self-renewal and differentiation in several tissues. It is composed of a core called THO, consisting of THOC1, 2, 5, 6, 7, and additional proteins. Bi-allelic mutations in THOC6 have been associated to Beaulieu-Boycott-Innes syndrome (BBIS), a syndromic form of intellectual disability (ID)...
September 20, 2018: American Journal of Medical Genetics. Part A
A Viswanathan, T Leffler, N Paloian, M Cain, P H McKenna
INTRODUCTION: Management of severe antenatally detected oligohydramnios with and without obstruction is improving with the result that more fetuses are surviving with early renal failure. Significant advances have occurred in all specialties involved in the management of these patients. All these specialties working together have resulted in the survival of more patients born with renal failure. OBJECTIVE: The aim of this study is to highlight the medical advances in antenatal management of fetal oligohydramnios and pulmonary hypoplasia and to demonstrate that transplantation into a diverted urinary system is safe and leads to good outcomes...
August 8, 2018: Journal of Pediatric Urology
Anna Pelc, Marcin Mikulewicz
Saethre-Chotzen syndrome (SCS) belongs to a group of rare congenital disorders connected with craniosynostosis and syndactyly. The purpose of this paper is to provide a review of the literature, to collect all reported symptoms and to describe the case of an 11-year-old female with SCS. The electronic databases PubMed and Scopus were searched to gain all symptoms of SCS described in the literature. The most common features of SCS described in the literature are synostosis of the coronal suture, syndactyly, facial asymmetry, low hairline, prominent ear crus, prominent nasal bridge, eyelid ptosis, and ocular hypertelorism...
April 2018: Dental and medical problems
Rhian L Clissold, Jon Fulford, Michelle Hudson, Beverley M Shields, Timothy J McDonald, Sian Ellard, Andrew T Hattersley, Coralie Bingham
Background: Heterozygous mutations in the HNF1B gene are the most common monogenic cause of developmental kidney disease. Extrarenal phenotypes frequently occur, including diabetes mellitus and pancreatic hypoplasia; the latter is associated with subclinical exocrine dysfunction. We measured faecal elastase-1 in patients with HNF1B-associated disease regardless of diabetes status and assessed the degree of symptoms associated with pancreatic exocrine deficiency. Methods: Faecal elastase-1 was measured in 29 patients with a known HNF1B mutation...
August 2018: Clinical Kidney Journal
Paulo Renato Marcelo Moscardi, Chryso P Katsoufis, Mona Jahromi, Ruben Blachman-Braun, Marissa J DeFreitas, Kristin Kozakowski, Miguel Castellan, Andrew Labbie, Rafael Gosalbez, Alireza Alam
BACKGROUND: Vesicoamniotic shunting (VAS) and other bladder drainage techniques for fetal lower urinary tract obstruction (LUTO) have been proven to ameliorate pulmonary hypoplasia and increase survival in patients with an initial poor prognosis. Currently there are limited prognostic tools available during gestation to evaluate and predict postnatal renal function. OBJECTIVE: The aim was to describe the prenatal growth of the renal parenchymal area (RPA) in patients with LUTO and determine its application as a predictor of renal function at one year of life...
August 2018: Journal of Pediatric Urology
Yan-Gong Wang, Shu-Ping Sun, Yi-Ling Qiu, Qing-He Xing, Wei Lu
BACKGROUND: Branchio-oto-renal (BOR) syndrome is a dominant autosomal disorder characterized by phenotypes such as hearing loss, branchial fistulae, preauricular pits, and renal abnormalities. EYA1, the human homolog of the Drosophila "eye absent" gene on chromosome 8q13.3, is recognized as one of the most important genes associated with BOR syndrome. METHODS: The proposita in this study was a 5-year-old Chinese girl with hearing loss, bilateral otitis media with effusion, microtia, facial hypoplasia, palatoschisis, and bilateral branchial cleft fistulae...
August 7, 2018: BMC Medical Genetics
Eva Gatzweiler, Bernd Hoppe, Oliver Dewald, Christoph Berg, Andreas Müller, Heiko Reutter, Florian Kipfmueller
BACKGROUND: Survival of neonates with intrauterine renal insufficiency and oligo- or anhydramnios correlates with the severity of secondary pulmonary hypoplasia. Early prenatal diagnosis together with repetitive amnioinfusions and modern intensive care treatment have improved the prognosis of these neonates. Extracorporeal membrane oxygenation is an established treatment option, mainly applied to neonates with pulmonary hypoplasia caused by congenital diaphragmatic hernia. However, a few case reports of extracorporeal membrane oxygenation in neonates with lower urinary tract obstruction have been published...
July 17, 2018: Journal of Medical Case Reports
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