Pediatric cystine disease

Cystineuria (cystinuria) is a familial hereditary disease. It is an autosomal recessive disease. It is composed of proximal renal tubular epithelial cells and jejunal mucosa. , Ornithine) and cystine. The disease is rare clinically and occurs mainly in children and infants. Cysteine ​​is confined in the lysosome of the cell, and its crystals are deposited in the internal organs such as the cornea, conjunctiva, bone marrow, lymph nodes, white blood cells, and kidneys, causing damage to the renal tubules and glomerular function, and eventually develop into uremia, more than prepuberty death.

The material in this site is intended to be of general informational use and is not intended to constitute medical advice, probable diagnosis, or recommended treatments.