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Home > West Medicine > Pediatrics > Pediatric Internal Med
百科

Fanconi-de Toni-Debré syndrome

儿科综合

Common symptoms

多尿、低钾血症、多饮、胱氨酸储积症、便秘、低血钾、碱性磷酸酶增高、蛋白尿、低钠血症、低磷血症

The pathology of disease

Fanconi-de Toni-Debré syndrome (Fanconi syndrome) is proximal renal tubular dysfunction; glucosuria; phosphaturia; aminoaciduria; rickets; failure to thrive; children; nephrology.

Symptoms

Growth failure; rickets; polyuria; dehydration; glucosuria; phosphaturia; aminoaciduria; child; metabolic acidosis

Causes

Inherited (cystinosis/Lowe/galactosemia) vs acquired; proximal tubule; child.

Treatment

Replace bicarbonate/phosphate/vitamin D; treat cause; nutrition; nephrology/pediatrics

Dept

Nephrology / pediatrics / genetics.

Warm reminder: Health education reference only; seek care at regular hospital.