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ORPHA:69076· ICD-10 E74.8· Familial renal glucosuria

Визначення(English summary)

A rare, genetic, glucose transport disorder characterized by the presence of persistent isolated glucosuria in the absence of both proximal tubular dysfunction and hyperglycemia. The disorder is benign in the majority of cases although it may occasionally manifest with polyuria, enuresis, a mild growth and pubertal maturation delay, hypercalciuria, aminoaciduria and, in severe cases, increased incidence of urinary infections and episodic dehydration and ketosis during pregnancy and starvation.

Поширеність
Unknown
Успадкування
Autosomal dominant, Autosomal recessive
Вік початку
All ages