Familial isolated primary hyperparathyroidism due to HRPT2 mutation.

[familial hypocalciuric hypercalcemia]

Primary hyperparathyroidism is a common endocrine disorder that is mostly caused by solitary tumors within the parathyroid glands . Characterized by early debut and higher frequency of multiple parathyroid masses , familial forms of primary hyperparathyroidism are caused by the already known mutations of : menin (MEN 1 syndrome ), RET proto-oncogene (MEN 2 syndrome ), HRPT 2 -parafibromin (hyperparathyroidism-jaw tumor syndrome ), calcium sensing receptor gene (familial hypocalciuric hypercalcemia ). A specific mutation in FIHP has not been identified in the majority of affected families . Recent studies revealed menin , HRPT 2 and calcium-sensing receptor mutations in patients with FIHP . Whether FIHP is a variant or an early stage of MEN 1 syndrome or hyperparathyroidism-jaw tumor syndrome is yet to be established . We present three siblings with familial isolated hyperparathyroidism due to solitary parathyroid adenoma and favorable evolution post-parathyroidectomy . Genetic tests revealed HRPT 2 mutation .

Diseases
Validation

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adrenomyeloneuropathy

allergic bronchopulmonary aspergillosis

aromatase deficiency

cadasil

carcinoma of the gallbladder

child syndrome

cholangiocarcinoma

congenital adrenal hyperplasia

esophageal adenocarcinoma

esophageal carcinoma

esophageal squamous cell carcinoma

familial hypocalciuric hypercalcemia

familial mediterranean fever

gm1 gangliosidosis

harlequin ichthyosis

hereditary cerebral hemorrhage with amyloidosis

hodgkin lymphoma, classical

kindler syndrome

lymphangioleiomyomatosis

neonatal adrenoleukodystrophy

pyomyositis

scrub typhus

sneddon syndrome

typhoid

von hippel-lindau disease

zellweger syndrome

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