Molecular pathogenesis of primary hyperparathyroidism.

[familial hypocalciuric hypercalcemia]

Primary hyperparathyroidism (PHPT ) is a common endocrinopathy , mostly caused by a monoclonal parathyroid adenoma . The hereditary syndromes include multiple endocrine neoplasia types 1 (MEN 1 ) and 2 A (MEN 2 A ), hereditary hyperparathyroidism -jaw tumor (HPTJT ), familial isolated hyperparathyroidism (FIHP ), familial hypocalciuric hypercalcemia (FHH ) and neonatal severe hyperparathyroidism (NSHPT ). Mutations of MEN 1 and CDKN 1 B genes are responsible for MEN 1 in 70 -80 % and about 2 % of cases , respectively . MEN 1 and CDKN 1 B genes have also a role in the pathogenesis of sporadic parathyroid adenomas . HRPT 2 /CDC 73 gene mutations are responsible for HPT-JT and sporadic parathyroid carcinoma . MEN 1 and HRPT 2 /CDC 73 genes mutations have also been found in a subset of FIHP families . FHH and NSHPT represent the mildest and severest variants of PHPT , caused by heterozygous and homozygous mutations in the calcium sensing receptor (CASR ) gene , respectively .

Diseases
Validation

Diseases presenting "neonatal severe hyperparathyroidism" symptom

familial hypocalciuric hypercalcemia

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