Infantile Nephropathic Cystinosis: Diagnosis and Treatment of a Systemic Disease

Date of submission: 28-10-2020 | Date of acceptance: 28-04-2021 | Published: 03-10-2021

Authors

  • Filipa Urbano Department of Pediatrics, Hospital de Santa Maria, North Lisbon University Hospital Center, Lisbon, Portugal
  • Catarina Salgado Department of Pediatrics, Hospital de Santa Maria, North Lisbon University Hospital Center, Lisbon, Portugal
  • Inês Leal Department of Ophthalmology, Hospital de Santa Maria, North Lisbon University Hospital Center, Lisbon, Portugal / Center for the Study of Vision Sciences, Faculty of Medicine, University of Lisbon, Lisbon, Portugal
  • Laura Vilarinho Neonatal Screening, Metabolism and Genetics Unit, Doctor Ricardo Jorge National Health Institute, Porto, Portugal
  • Carla Simão Department of Pediatrics, Hospital de Santa Maria, North Lisbon University Hospital Center, Lisbon, Portugal / University Clinic of Pediatrics, Faculty of Medicine, University of Lisbon, Lisbon, Portugal

DOI:

https://doi.org/10.25754/pjp.2021.21307

Abstract

Cystinosis is a rare autosomal recessive lysosomal storage disorder leading to end-stage renal disease and many extra-renal complications.

Seventeen month old girl with normal development until 14 months, when parents noted polydipsia, polyuria and growth stagnation. Investigations performed in a tertiary setting were compatible with Fanconi Syndrome and X-ray with rickets. The hypothesis of diagnosis of infantile nephropathic cystinosis was raised. The high intra-leukocytic cystine and the genetic study confirmed the disease. Treatment with cysteamine was started. At 21 months, cystine eye crystals appeared and topical cysteamine was added. She is currently 3 years old, with a satisfactory weight and height progression, with a stable kidney disease, without progression of rickets and with asymptomatic eye crystals.

A high degree of suspicion for this disease allows an early start of targeted therapy and an adequate follow-up, improving the prognosis of a disease with high morbility.

Keywords: Cystinosis; Cysteamine; Fanconi Syndrome; Chronic Kidney Diseases; Growth disorders; Pediatrics

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Published

2021-11-03

Issue

Section

Case reports

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