Results: 2

Multidisciplinary approach for patients with nephropathic cystinosis: model for care in a rare and chronic renal disease

J. bras. nefrol; 41 (1), 2019
Abstract Care for patients with chronic and rare diseases is complex, especially considering the lack of knowledge about the disease, which makes early and precise diagnosis difficult, as well as the need for specific tests, sometimes of high complexity and cost. Added to these factors are difficulties i...

Cistinose nefropática: relato de 2 casos e revisäo da literatura
Nephropathic cystinosis: report of two cases and review of the literature

Os autores descrevem dois casos de cistinose nefropática, da forma infantil, que se apresentaram com síndrome de Fanconi e diabetes insipidus nefrogênico. Após a confirmaçäo diagnóstica através da identificaçäo de cristais de cistina pelo exame de lâmpada de fenda e aspirado de medula óssea, ...