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: | , , , , |
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| Formato: | article |
| Lenguaje: | EN PT |
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Sociedade Portuguesa de Pediatria
2021
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| Materias: | |
| Acceso en línea: | https://doaj.org/article/bc03a2e978b642c9b88c31a33730e948 |
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| Sumario: | 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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