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Familial benign hypocalciuric hypercalcemia and neonatal hyperparathyroidism

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Clinical Reviews in Bone and Mineral Metabolism Aims and scope Submit manuscript

Conclusion

In summary, both FBHH and NSHPT represent the phenotypic expression of inactivating mutations of the CaSR in most cases, FBHH usually presenting with mild asymptomatic lifelong hypercalcemia and NSHPT with generally more severe, potentially lethal hypercalcemia, which, in cases of homozygous or compound heterozygous CaSR mutations, carries a high morbidity. Additional molecular studies should elucidate the basis for variations in the phenotypic and biochemical abnormalities observed with both FBHH and NSHPT and identify the disease genes on chromosome 19 that can also cause FBHH in rare cases.

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Authors and Affiliations

  1. Calcium Metabolism and Osteoporosis Program, Endocrine Division, American University of Beirut, Bliss Street, 113-6044, Beirut, Lebanon

    Ghada El-Hajj Fuleihan MD, MPH

  2. Endocrine-Hypertension Division, Brigham and Women's Hospital and Harvard Medical School, 02115, Boston, MA

    Edward M. Brown MD

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  1. Ghada El-Hajj Fuleihan MD, MPH
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Correspondence to Ghada El-Hajj Fuleihan MD, MPH.

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Fuleihan, G.EH., Brown, E.M. Familial benign hypocalciuric hypercalcemia and neonatal hyperparathyroidism. Clinic Rev Bone Miner Metab 1, 77–84 (2002). https://doi.org/10.1385/BMM:1:1:77

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