Fanconi syndrome. Definition

Medical Definition: Fanconi syndrome

Group of diseases in multiple proximal tubular dysfunction, characterized by glucosuria, aminoaciduria, phosphaturia and often bicarbonaturia (proximal renal tubular acidosis) and tubular reabsorption disorder. Sometimes it is associated with proteinuria, hyperuricosuria and excessive loss of sodium and urine with polyuria and polydipsia. Is secondary to a nonspecific enzyme disorder of the proximal tubule. It may be idiopathic or secondary (genetic or acquired diseases such as cystinosis, glycogen storage disease, multiple myeloma, renal transplantation, medications, toxic, etc.).. The child produces growth retardation and renal rickets. Rare disease, usually congenital, that causes aplastic anemia and various malformations, the most common skin hyperpigmentation, absence or hypoplasia of the thumbs, radial aplasia, impaired kidney, delayed sexual development and pondostatural, microcephaly and others. The type of inheritance is autosomal recessive. There is great variability in the expressivity of the process and the installation often delayed or even the possibility of subclinical forms.

* Automatic translation