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Genetics, hypophosphatasia, rare disease



  1. Hicks, Rodney W. PhD, RN, FNP-BC, FAAN, FAANP (Assistant Dean for Administration and Research, Professor)


ABSTRACT: Hypophosphatasia is a rare, progressive metabolic disorder inherited in either an autosomal dominant or an autosomal recessive fashion. Affected individuals may have unusual bone development. Infants may be diagnosed with infantile rickets. Symptoms then abate during adolescence, with bony abnormalities manifesting again as mid-life osteopenia or osteoporosis. Long-term management is focused on minimizing complications, so consultations and periodic visits with a variety of specialists is often warranted. New therapies are on the horizon, but some agents used to treat bone diseases are contraindicated in this population. At-risk relatives should be referred to genetic professionals to determine mode of inheritance and discuss options.