Infantile Nephropathic Cystinosis: Diagnosis and Treatment of a Systemic Disease

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...

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Autores principales:	Filipa Urbano, Catarina Salgado, Inês Leal, Laura Vilarinho, Carla Simão
Formato:	article
Lenguaje:	EN PT
Publicado:	Sociedade Portuguesa de Pediatria 2021
Materias:	Pediatrics RJ1-570 Medicine (General) R5-920
Acceso en línea:	https://doaj.org/article/bc03a2e978b642c9b88c31a33730e948
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spelling	oai:doaj.org-article:bc03a2e978b642c9b88c31a33730e9482021-11-04T15:21:26ZInfantile Nephropathic Cystinosis: Diagnosis and Treatment of a Systemic Disease2184-33332184-4453https://doaj.org/article/bc03a2e978b642c9b88c31a33730e9482021-11-01T00:00:00Zhttps://pjp.spp.pt/article/view/21307https://doaj.org/toc/2184-3333https://doaj.org/toc/2184-4453 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 Filipa UrbanoCatarina SalgadoInês LealLaura VilarinhoCarla SimãoSociedade Portuguesa de PediatriaarticlePediatricsRJ1-570Medicine (General)R5-920ENPTPortuguese Journal of Pediatrics , Vol 52, Iss 4 (2021)
institution	DOAJ
collection	DOAJ
language	EN PT
topic	Pediatrics RJ1-570 Medicine (General) R5-920
spellingShingle	Pediatrics RJ1-570 Medicine (General) R5-920 Filipa Urbano Catarina Salgado Inês Leal Laura Vilarinho Carla Simão Infantile Nephropathic Cystinosis: Diagnosis and Treatment of a Systemic Disease
description	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
format	article
author	Filipa Urbano Catarina Salgado Inês Leal Laura Vilarinho Carla Simão
author_facet	Filipa Urbano Catarina Salgado Inês Leal Laura Vilarinho Carla Simão
author_sort	Filipa Urbano
title	Infantile Nephropathic Cystinosis: Diagnosis and Treatment of a Systemic Disease
title_short	Infantile Nephropathic Cystinosis: Diagnosis and Treatment of a Systemic Disease
title_full	Infantile Nephropathic Cystinosis: Diagnosis and Treatment of a Systemic Disease
title_fullStr	Infantile Nephropathic Cystinosis: Diagnosis and Treatment of a Systemic Disease
title_full_unstemmed	Infantile Nephropathic Cystinosis: Diagnosis and Treatment of a Systemic Disease
title_sort	infantile nephropathic cystinosis: diagnosis and treatment of a systemic disease
publisher	Sociedade Portuguesa de Pediatria
publishDate	2021
url	https://doaj.org/article/bc03a2e978b642c9b88c31a33730e948
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Infantile Nephropathic Cystinosis: Diagnosis and Treatment of a Systemic Disease

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