Q:

Name some inherited disorders leading to hypophosphatemia

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An 8-year-old male presents with concern for bilateral genu valgum deformity and complaint of pain in both lower limbs on walking or running. Parents note that he has always been the shortest boy in his class at school and his complaints of pain on walking and lower limb deformity have developed and progressed over the past six months. Patient and parents deny any trauma, and there is no history of fractures. Patient does not have any alopecia, or dental problems such as discoloration or abscesses. Patient has a history of polyuria and primary nocturnal enuresis.

Name some inherited disorders leading to hypophosphatemia.

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• X-linked hypophosphatemia (XLH) is an X-linked dominant disorder caused by loss of function of the phosphate-regulating gene with homology to endopeptidases located on the X-chromosome (PHEX), associated with elevation of FGF23.

• Autosomal recessive forms of hypophosphatemic rickets are caused by inactivating mutations in dentin matrix protein 1 (DMP1) and ectonucleotide pyrophosphatase/phosphodiesterase1 (ENPP1), also associated with excess fibroblast growth factor 23 (FGF23).

• Autosomal dominant hypophosphatemic rickets (ADHR) due to mutations in FGF23 gene.

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