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cystinosis/tambazi

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NakalaMajaribio ya klinikiHati miliki
2 matokeo

Ocular changes in nephropathic cystinosis: The course of the gold-dust.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala
Ingia / Ingia
OBJECTIVE Cystinosis is an autosomal recessive inherited lysosomal storage disease with an incidence of 1:100.000 up to 1:200.000 caused by a gene mutation of a lysosomal transport protein resulting in deposition of cystine in lysosomes in all cells and tissues. In the cornea, crystalline, gold-dust

A case of intracranial hypertension and papilledema associated with nephropathic cystinosis and ocular involvement.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala
Ingia / Ingia
An 11 year old boy with nephropathic cystinosis developed moderate to severe bilateral optic disc edema two months after he received a deceased donor renal allograft. The bilateral optic disc edema was found to be a result of intracranial hypertension diagnosed by lumbar puncture. No etiology was
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