Hereditary Hypophosphatemic Bone Disease

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Abstract
To the Editor: The pathogenesis of hereditary hypophosphatemic ("vitamin-D-resistant") rickets is unknown. The condition is characterized by X-linked dominant transmission and produces abnormalities in bone, kidney, intestine and parathyroid gland that are difficult to relate.1 We have in our care two siblings, classically and severely affected phenocopies with first-cousin parents and a third normal sibling, in whom autosomal recessive transmission is the only satisfactory explanation of inheritance.2 One of us has two further patients, also siblings from a first-cousin marriage, in whom a similar hereditary explanation is necessary. At least two separate genes, and thus more than one biochemical . . .