Literature DB >> 32714619

Failure to Thrive, Jaundice, and Polyuria in Early Infancy: Common Presentation with an Uncommon Lethal Etiology.

Sonia Sharma1.   

Abstract

A 5-month-old female infant from a consanguineous Indian Muslim family presented with polyuria, polydipsia, failure to thrive, impaired renal function, and neonatal hepatitis of unknown cause at 1 month of age. Clinical exome testing revealed renal-hepatic-pancreatic dysplasia caused by homozygous c. 1985 + 5G > A pathogenic variations in NPHP3 . Our case illustrates delay in confirmatory diagnosis of such rare disorders in our region due to the lack of suspicion and unawareness of the availability of genetic testing even when there are no cost constraints. © Thieme Medical Publishers.

Entities:  

Keywords:  cystic kidney; polyuria; renal–hepatic–pancreatic dysplasia

Year:  2019        PMID： 32714619      PMCID： PMC7375847          DOI： 10.1055/s-0039-1700802

Source DB:  PubMed          Journal:  J Pediatr Genet        ISSN： 2146-460X


  15 in total

1.  Familial dysplasia of kidneys, liver and pancreas: a probably genetically determined syndrome.

Authors:  B I IVEMARK; V OLDFELT; R ZETTERSTROM
Journal:  Acta Paediatr       Date:  1959-01       Impact factor: 2.299

2.  Renal-hepatic-pancreatic dysplasia: an autosomal recessive condition that is not linked to the PKHD1 gene on chromosome 6p21.1-p12.

Authors:  Kasmintan A Schrader; Tanya N Nelson; Deborah E McFadden; Tapio Pantzar; Sylvie Langlois
Journal:  Am J Med Genet A       Date:  2007-08-01       Impact factor: 2.802

3.  Ivemark's renal-hepatic-pancreatic dysplasia: analytic approach to a perinatal autopsy.

Authors:  R W Bendon
Journal:  Pediatr Dev Pathol       Date:  1999 Jan-Feb

4.  Renal-hepatic-pancreatic dysplasia: an autosomal recessive disorder with renal and hepatic failure.

Authors:  T J Neuhaus; F Sennhauser; J Briner; B Van Damme; E P Leumann
Journal:  Eur J Pediatr       Date:  1996-09       Impact factor: 3.183

5.  Trisomy C and cystic dysplasia of kidneys, liver and pancreas.

Authors:  J D Blair
Journal:  Birth Defects Orig Artic Ser       Date:  1976

6.  Renal dysplasia and asplenia in two sibs.

Authors:  M D Crawfurd
Journal:  Clin Genet       Date:  1978-12       Impact factor: 4.438

7.  Renal-hepatic-pancreatic dysplasia: a sibship with skeletal and central nervous system anomalies and NPHP3 mutation.

Authors:  Lawrence Copelovitch; Maureen M O'Brien; Marta Guttenberg; Edgar A Otto; Bernard S Kaplan
Journal:  Am J Med Genet A       Date:  2013-05-17       Impact factor: 2.802

8.  Renal-hepatic-pancreatic dysplasia: a syndrome reconsidered.

Authors:  J Bernstein; M Chandra; J Creswell; E Kahn; N N Malouf; M McVicar; A G Weinberg; R E Wybel
Journal:  Am J Med Genet       Date:  1987-02

9.  Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.

Authors:  Carsten Bergmann; Manfred Fliegauf; Nadina Ortiz Brüchle; Valeska Frank; Heike Olbrich; Jan Kirschner; Bernhard Schermer; Ingolf Schmedding; Andreas Kispert; Bettina Kränzlin; Gudrun Nürnberg; Christian Becker; Tiemo Grimm; Gundula Girschick; Sally A Lynch; Peter Kelehan; Jan Senderek; Thomas J Neuhaus; Thomas Stallmach; Hanswalter Zentgraf; Peter Nürnberg; Norbert Gretz; Cecilia Lo; Soeren Lienkamp; Tobias Schäfer; Gerd Walz; Thomas Benzing; Klaus Zerres; Heymut Omran
Journal:  Am J Hum Genet       Date:  2008-03-27       Impact factor: 11.025

10.  Renal-hepatic-pancreatic dysplasia syndrome (Ivemark's syndrome).

Authors:  Mahesha Vankalakunti; Kirti Gupta; Nandita Kakkar; Ashim Das
Journal:  Diagn Pathol       Date:  2007-07-02       Impact factor: 2.644
View more
  1 in total

Review 1.  Renal-hepatic-pancreatic dysplasia-1 with a novel NPHP3 genotype: a case report and review of the literature.

Authors:  Hui Zhu; Zhi-Hui Zhao; Shu-Yao Zhu; Fu Xiong; Li-Hong He; Yong Zhang; Jin Wang
Journal:  BMC Pediatr       Date:  2022-10-18       Impact factor: 2.567
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.