| Autor: |
Vaishali More, Preeti Shanbag |
| Jazyk: |
angličtina |
| Rok vydání: |
2016 |
| Předmět: |
|
| Zdroj: |
Saudi Journal of Kidney Diseases and Transplantation, Vol 27, Iss 3, Pp 598-601 (2016) |
| Druh dokumentu: |
article |
| ISSN: |
1319-2442 |
| DOI: |
10.4103/1319-2442.182438 |
| Popis: |
Cystinosis is an autosomal recessive lysosomal storage disorder characterized by the accumulation of the amino-acid cysteine in various organs and tissues. Infantile nephropathic cystinosis is the most severe form of the disorder. We describe the clinical features in a four and a half-year-old Indian boy with infantile nephropathic cystinosis that presented with the incomplete Fanconi syndrome, hydro-uretero-nephrosis with megacystis, and hypothyroidism. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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