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Renal hypoplasia

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
Susanna Negrisolo, Andrea Carraro, Giulia Fregonese, Elisa Benetti, Franz Schaefer, Marta Alberti, Salvatore Melchionda, Rita Fischetto, Mario Giordano, Luisa Murer
Nail Patella syndrome (NPS) is a rare autosomal dominant disease characterized by varying degrees of patella, nail, and elbows dysplasia and also ocular and renal congenital abnormalities. The renal involvement, ranging from hematuria and proteinuria to end-stage renal disease, is present in 22-60% of NPS cases. Heterozygous variants in LMX1B are known to be responsible of NPS and it has been hypothesized that the variable expressivity is due to the interaction of LMX1B with other developmental genes. We reported a case of co-presence of LMX1B and PAX2 variants in a child with extrarenal manifestation of NPS and end-stage renal disease but congenital bilateral renal hypodysplasia and vesicoureteral reflux...
November 2018: European Journal of Human Genetics: EJHG
Silvia Ferrè, Peter Igarashi
Hepatocyte nuclear factor-1β (HNF-1β) is an essential transcription factor that regulates the development and function of epithelia in the kidney, liver, pancreas, and genitourinary tract. Humans who carry HNF1B mutations develop heterogeneous renal abnormalities, including multicystic dysplastic kidneys, glomerulocystic kidney disease, renal agenesis, renal hypoplasia, and renal interstitial fibrosis. In the embryonic kidney, HNF-1β is required for ureteric bud branching, initiation of nephrogenesis, and nephron segmentation...
July 1, 2018: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
Mari Okada, Koichi Kamei, Kentaro Matsuoka, Shuichi Ito
Acute rejection is a major cause of graft loss in patients with kidney transplantations. However, the appropriate timing for performing a biopsy is often difficult to gauge in a clinical settings. We encountered an 8-year-old boy in whom antibody mediated rejection (AMR) associated with de novo donor-specific antibody (DSA) developed shortly after an episode of type IA acute cellular rejection (ACR). He had received a preemptive ABO-compatible kidney transplantation due to bilateral renal hypoplasia. Type IA ACR developed 2 months after transplantation and was successfully treated with methylprednisolone pulse therapy (MPT) and gusperimus hydrochloride...
November 2018: CEN Case Reports
Priyadarshani Galappatthy, Chiranthi Kongala Liyanage, Marianne Nishani Lucas, Dilini T L M Jayasekara, Sachith Aloka Abhayaratna, Chamari Weeraratne, Kusum De Abrew, Padma Sriyani Gunaratne, Ranjani Gamage, Chandrika N Wijeyaratne
BACKGROUND: Management of epilepsy during pregnancy in a resource-limited setting (RLS) is challenging. This study aimed to assess obstetric outcomes and effects on babies of women with epilepsy (WWE) exposed to Anti-epileptic drugs (AEDs) compared to non-exposed controls in a RLS. METHODS: Pregnant WWE were recruited from antenatal and neurology clinics of a tertiary care hospitals in Sri Lanka. Patients were reviewed in each trimester and post-partum. Medication adherence, adverse effects, seizure control and carbamazepine blood levels were monitored...
June 14, 2018: BMC Pregnancy and Childbirth
Lai Kuan Dionne, Kyuhwan Shim, Masato Hoshi, Tao Cheng, Jinzhi Wang, Veronique Marthiens, Amanda Knoten, Renata Basto, Sanjay Jain, Moe R Mahjoub
Centrosome number is tightly controlled to ensure proper ciliogenesis, mitotic spindle assembly, and cellular homeostasis. Centrosome amplification (the formation of excess centrosomes) has been noted in renal cells of patients and animal models of various types of cystic kidney disease. Whether this defect plays a causal role in cystogenesis remains unknown. Here, we investigate the consequences of centrosome amplification during kidney development, homeostasis, and after injury. Increasing centrosome number in vivo perturbed proliferation and differentiation of renal progenitors, resulting in defective branching morphogenesis and renal hypoplasia...
July 2, 2018: Journal of Cell Biology
Y A Ito, A C Smith, K D Kernohan, I A Pena, A Ahmed, L M McDonell, C Beaulieu, D E Bulman, A Smidt, S L Sawyer, D A Dyment, K M Boycott, C L Clericuzio
A novel autosomal recessive disorder characterized by pre- and postnatal growth restriction with microcephaly, distinctive craniofacial features, congenital alopecia, hypoplastic kidneys with renal insufficiency, global developmental delay, severe congenital sensorineural hearing loss, early mortality, hydrocephalus, and genital hypoplasia was observed in 4 children from 3 families of New Mexican Hispanic heritage. Three of the children died before 3 years of age from uremia and/or sepsis. Exome sequencing of the surviving individual identified a homozygous c...
October 2018: Clinical Genetics
Ya Xing, Jimmy Lloyd Holder, Yong Liu, Meizhen Yuan, Qi Sun, Xiaoxing Qu, Linbei Deng, Jia Zhou, Yingjun Yang, Ming Guo, Sau-Wai Cheung, Luming Sun
PURPOSE: Wolf-Hirschhorn syndrome (WHS) is a contiguous gene syndrome due to terminal chromosome 4p deletions. We explored prenatal diagnosis of WHS by ultrasound as well as karyotype and single nucleotide polymorphism array (SNP array) to characterize the structural variants of WHS prenatally. METHODS: Ten prenatal cases of WHS were evaluated for the indication of the invasive testing, the ultrasound features, and cytogenetic and microarray results. RESULTS: Eight cases were diagnosed by karyotyping and SNP array, while two cases were detected only by SNP array...
August 2018: Archives of Gynecology and Obstetrics
Yoshinori Sato, Hiroyasu Tsukaguchi, Hiroyuki Morita, Koichiro Higasa, Mai Thi Nhu Tran, Michito Hamada, Toshiaki Usui, Naoki Morito, Shoichiro Horita, Takao Hayashi, Junko Takagi, Izumi Yamaguchi, Huan Thanh Nguyen, Masayo Harada, Kiyoko Inui, Yuichi Maruta, Yoshihiko Inoue, Fumihiko Koiwa, Hiroshi Sato, Fumihiko Matsuda, Shinya Ayabe, Seiya Mizuno, Fumihiro Sugiyama, Satoru Takahashi, Ashio Yoshimura
Focal segmental glomerulosclerosis (FSGS) is a leading cause of end-stage renal disease in children and adults. Genetic factors significantly contribute to early-onset FSGS, but the etiologies of most adult cases remain unknown. Genetic studies of monogenic syndromic FSGS exhibiting extra-renal manifestations have uncovered an unexpected biological role for genes in the development of both podocytes and other cellular lineages. To help define these roles, we studied two unrelated families with FSGS associated with Duane Retraction Syndrome, characterized by impaired horizontal eye movement due to cranial nerve malformation...
August 2018: Kidney International
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