What is the prevalence of hypophosphatemic rickets?

Updated: May 02, 2018
  • Author: James CM Chan, MD; Chief Editor: Sasigarn A Bowden, MD  more...
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Answer

Although serum phosphate levels are similarly depressed in affected males and females, the degree of bone involvement is substantially less severe in heterozygous females. [19] All hemizygous males are clinically affected. [1, 5]

As in all genetic disorders, hypophosphatemic rickets is present from conception. Infant birth weight is generally normal, but early growth may be slower than normal. The author's experience indicates abnormalities are common at birth, including cranial synostosis and increased bone density. [20]

A study by Endo et al found the estimated incidence of X-linked hypophosphatemic rickets in Japan to be approximately 1 case in 20,000, with this condition being the most prevalent genetic FGF-23–related hypophosphatemic disease in the country. [21]  A study by Beck-Nielsen et al determined hereditary rickets to be the prevalent form of rickets in ethnic Danish children in southern Denmark, although among all young children in that region, nutritional rickets was found to be the most common type. [22]  A study by Rafaelsen et al reported that in Norwegian children, the prevalence of X-liked dominant hypophosphatemic rickets is about 1 in 60,000. [23]


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