Infantile nephropathic cystinosis: case series and review of literature

ABSTRACT

Cystinosis is a rare metabolic disease with an autosomal recessive inheritance. It is characterized by deposition of an extraordinary amount of cystine in different organs of the body. Children with infantile nephropathic cystinosis [INC] present with failure to thrive, polyuria, polydipsia and photophobia in early infancy. They progress to chronic renal failure [CRF] between the ages 5 to 10 years. The diagnosis of cystinosis should be considered in young children with failure to thrive or CRF of unknown etiology. Cysteamine is effective in delaying the progression of this disease. Four patients with INC from two families were followed over the last few years. All of them presented with polyuria, polydipsia, failure to thrive and rickets. Laboratory findings included glucosuria, hypophosphatemia, hypokalemia, proteinuria and later on azotemia. Therapy with cysteamine showed clinical improvement when started early