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CC BY 4.0 · Journal of Child Science 2021; 11(01): e70-e73
DOI: 10.1055/s-0041-1725175
Case Report

Homozygous Missense Mutation on Exon 22 of PKHD1 Gene Causing Fatal Autosomal Recessive Polycystic Kidney Disease

Sajina Sathyan
1   Department of Neonatology, Kerala Institute of Medical Sciences, Kerala, India
,
Femitha Pournami 
1   Department of Neonatology, Kerala Institute of Medical Sciences, Kerala, India
,
Gopala Krishna Madhavilatha
2   Medgenome Laboratories, Bengaluru, Karnataka, India
,
Amrit Tuteja
1   Department of Neonatology, Kerala Institute of Medical Sciences, Kerala, India
,
Anand Nandakumar
1   Department of Neonatology, Kerala Institute of Medical Sciences, Kerala, India
,
Jyothi Prabhakar
1   Department of Neonatology, Kerala Institute of Medical Sciences, Kerala, India
,
Naveen Jain
1   Department of Neonatology, Kerala Institute of Medical Sciences, Kerala, India
› Author Affiliations Funding None.
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Abstract

Autosomal recessive polycystic kidney disease, described as a congenital hepatorenal fibrocystic syndrome, is a significant inherited cause of end stage renal failure in children with reported incidence of 1 in 20,000 live births. The clinical spectrum is wide. Antenatal findings of echogenic reniform enlarged kidneys associated with evidence of intrauterine renal failure in the form of severe oligoamnios are pathognomonic. Postnatal illness ranges from fatal respiratory failure due to pulmonary hypoplasia in neonates to chronic kidney disease in children, or later presentation of ductal plate malformation and portal hypertension. Advances in genetic diagnostic techniques have allowed recognition of genotypes. We report a novel homozygous missense variant on exon 22 of PKHD1 gene (chr6:51915067G > A; c.2167C > T) that results in the amino acid substitution of cysteine for arginine at codon 723 (p.Arg723Cys). The affected neonate presented with antenatal anhydramnios, classical radiological features, and severe hypoxic respiratory failure likely due to pulmonary hypoplasia and succumbed. The parents were found to be heterozygous carriers. Detection of the specific variant in the proband facilitated prenatal investigation in the next pregnancy.

Keywords

ARPKD - PKHD1 - polycystic kidney disease - fibrocystin-polyductin complex


Publication History

Received: 20 October 2020

Accepted: 26 January 2021

Article published online:
22 March 2021

© 2021. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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