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Gastrointestinal manifestations of nephropathic cystinosis in children

Shahrbanoo Nakhaii1, Nakysa Hooman, Hasan Otukesh

  • 1Department of Pediatric Gastroenterology, Ali-Asghar Children Hospital, Iran University of Medical Sciences, No. 193 Vahid Dastgerdi Street, Modarres Highway, Tehran, Iran. snakhaie@yahoo.com

Iranian Journal of Kidney Diseases
|October 21, 2009
PubMed

Insights

Gastrointestinal issues like vomiting and poor growth are common in children with cystinosis. Early evaluation and treatment are crucial for managing these symptoms in pediatric patients.

Area of Science:

  • Pediatric Nephrology
  • Gastroenterology
  • Rare Genetic Disorders

Background:

  • Cystinosis is a rare autosomal recessive disorder with renal and extrarenal manifestations.
  • Gastrointestinal (GI) dysfunction is recognized in adolescents with cystinosis but often overlooked in infants.
  • This case series investigates the spectrum of GI issues in pediatric cystinosis patients.

Purpose of the Study:

  • To review and characterize the gastrointestinal manifestations in children diagnosed with cystinosis.
  • To highlight the prevalence of GI symptoms in a pediatric cohort with cystinosis.
  • To emphasize the importance of considering GI evaluation in young cystinosis patients.

Main Methods:

  • Retrospective review of 23 children (aged 1.0-12.5 years) with cystinosis admitted between 1996-2005.
  • Inclusion criteria: cystine crystals in bone marrow aspirates and corneal deposition.
  • Data collected on gastrointestinal signs, symptoms, growth parameters, and endoscopic findings.

Main Results:

  • High prevalence of vomiting (69.6%) and failure to thrive (height <3rd percentile in 69.6%, weight <3rd percentile in 73.9%).
  • Other common GI symptoms included hepatomegaly (34.8%), diarrhea (26.1%), and splenomegaly (21.7%).
  • Esophagogastroduodenoscopy in 6 patients revealed chronic inactive gastritis with H. pylori infection in 2 (8.7%).

Conclusions:

  • Pediatric cystinosis presents with a broad range of gastrointestinal disturbances.
  • Increased awareness and prompt GI evaluation are essential for affected children.
  • Timely intervention can improve outcomes for severely impacted patients.
Abstract

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