Fanconi-Bickel syndrome and autosomal recessive proximal tubulopathy with hypercalciuria (ARPTH) are allelic variants caused by GLUT2 mutations.

doi:10.1210/jc.2012-1279

Article

Fanconi-Bickel syndrome and autosomal recessive proximal tubulopathy with hypercalciuria (ARPTH) are allelic variants caused by GLUT2 mutations.

The Journal of clinical endocrinology and metabolism - 1 Oct 2012

Mannstadt Michael, Magen Daniella, Segawa Hiroko, Stanley Takara, Sharma Amita, Sasaki Shohei, Bergwitz Clemens, Mounien Lourdes, Boepple Paul, Thorens Bernhard, Zelikovic Israel, Jüppner Harald

Abstract excerpt

CONTEXT: Many inherited disorders of calcium and phosphate homeostasis are unexplained at the molecular level. OBJECTIVE: The objective of the study was to identify the molecular basis of phosphate and calcium abnormalities in two unrelated, consanguineous families. PATIENTS: The affected members in family 1 presented with rickets due to profound urinary phosphate-wasting and hypophosphatemic rickets. In the...

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Fanconi-Bickel syndrome and autosomal recessive proximal tubulopathy with hypercalciuria (ARPTH) are allelic variants caused by GLUT2 mutations.

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