Familial hypophosphatemia: an unusual presentation with low back ache, heel pain, and a limp in a young man, and literature review.

Sharon Arthur, Arvind Chopra

Journal: Clinical rheumatology 2011;30(4):585-9

PMID: 21042824

Abstract

A case of young man with low back ache and heel pains who was examined in a rheumatology outpatient and diagnosed as familial hypophosphatemia (FH), probably X-linked (XL), is presented. FH is most commonly transmitted as XL. The role of PHEX gene and fibroblast growth factor 23 is also described.

Address: Center for Rheumatic Diseases, 11 Hermes Elegance, 1988, Convent Street, Camp, Pune, 411001, India.

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