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

Diseases presenting "specific mutation" symptom

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

familial hypocalciuric hypercalcemia

gm1 gangliosidosis

junctional epidermolysis bullosa

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