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A New Kindred with Hereditary Hypophosphatemic Rickets with Hypercalciuria: Implications for Correct Diagnosis and Treatment

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Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a new autosomal form of hypophosphatemic rickets, recently described. This disease is characterized, and differs from other forms of hereditary hypophosphatemic rickets and/or
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  Abstract: Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a new autosomalform of hypophosphatemic rickets, recently described. This disease is characterized, anddiffers from other forms of hereditary hypophosphatemic rickets and/or osteomalacia byincreased serum levels of ,!"#dihydro$yvitamin %, hypercalciuria and completeremission of the disease on phosphate therapy alone. However, only another probable&sraeli kindred, and seemin'ly a few sporadic cases from urope, orth *merica and+apan have been reported in the literature. e describe here a new kindred of +ewish-emenite ori'in (unrelated to other &sraeli families) with typical HHRH. Two additionalmembers of this family suffer from a milder asymptomatic form of the disease, whichpresents as absorptive hypercalciuria without si'ns or symptoms of bone disease. &tseems to us that HHRH is underdia'nosed, due to its similarity to other hypophosphatemic syndromes in clinical, radiolo'ical and most biochemical parameters.Therefore, it is recommended that urinary calcium e$cretion and serum ,!"#dihydro$yvitamin % concentrations be measured in every patient with hypophosphatemicrickets/and or osteomalacia before the initiation of any therapy. The correct dia'nosis of HHR is of immense therapeutic implications. hosphate therapy alone could cause acomplete remission in HHRH, while the addition of active vitamin % metabolites, as isrecommended in hypophosphatemic vitamin % resistant rickets, could cause deteriorationin the patientamp01230s condition. Publication Date: 1992
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