CC BY 4.0 · Journal of Child Science 2020; 10(01): e45-e47
DOI: 10.1055/s-0040-1713630
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Renal Calculi as Initial Presenting Symptom of Glycogen Storage Disease (Type 1 A) in Early Infancy

1  Department of Pediatric Gastroenterology, Indraprastha Apollo Hospital, New Delhi, Delhi, India
,
Smita Malhotra
1  Department of Pediatric Gastroenterology, Indraprastha Apollo Hospital, New Delhi, Delhi, India
,
Anupam Sibal
1  Department of Pediatric Gastroenterology, Indraprastha Apollo Hospital, New Delhi, Delhi, India
› Author Affiliations
Further Information

Publication History

08 April 2020

16 May 2020

Publication Date:
13 July 2020 (online)

  

Abstract

Glycogen storage diseases are a group of heterogeneous metabolic disorders that result from a defect in enzymatic pathway of either glycogen synthesis or glycogen degradation. Here we are reporting a case of glycogen storage diseases type 1 with renal stone as initial manifestation of disease at 2 months of age. There were case reports of recurrent renal calculi in older age group with this disease and considered to be arisen due to metabolic derangements. Although the exact mechanism of renal stones in glycogen storage disease is not clear, in this unique case occurrence of renal stones at 2 months of age suggests that the pathogenesis of renal calculi is probably multifactorial or a part of disease.