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

Sonia Sharma1

  • 1Pediatric Nephrology Unit, Department of Pediatrics, Max Super Speciality Hospital, New Delhi, India.

Journal of Pediatric Genetics
|July 28, 2020
PubMed

Insights

A rare genetic disorder, renal-hepatic-pancreatic dysplasia, was diagnosed in an infant using clinical exome testing. This highlights the need for increased awareness of genetic testing for rare diseases.

Area of Science:

  • Genetics
  • Pediatrics
  • Nephrology

Background:

  • Consanguineous family background in Indian Muslim population.
  • Infant presented with symptoms including polyuria, polydipsia, failure to thrive, impaired renal function, and neonatal hepatitis.
  • Previous diagnosis of neonatal hepatitis of unknown cause at 1 month of age.

Observation:

  • Clinical exome testing was performed.
  • The infant was found to have homozygous pathogenic variations in the NPHP3 gene.

Findings:

  • The identified genetic variations (c. 1985+5G>A) confirmed a diagnosis of renal-hepatic-pancreatic dysplasia.
  • The condition is caused by mutations in the NPHP3 gene.

Implications:

  • Highlights diagnostic delays for rare genetic disorders in certain regions.
  • Emphasizes the importance of clinical exome testing and raising awareness of genetic testing availability.
  • Underscores the need for increased suspicion and awareness among healthcare providers regarding rare genetic conditions, irrespective of cost constraints.

Keywords:
cystic kidneypolyuriarenal–hepatic–pancreatic dysplasia

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