Sporadic and hereditary primary hyperparathyroidism.

[familial hypocalciuric hypercalcemia]

Primary hyperparathyroidism (PHPT ) is a common endocrine disorder , particularly frequent in post-menopausal women . It is characterized by hypercalcemia with inappropriately high spontaneous plasma PTH . Singlegland adenoma is the most common cause (75 - 85 %). PHPT is usually a sporadic disease but in approximately <5 % of cases , a familial hyperparathyroid syndrome is diagnosed . Familial hyperparathyroidism is a clinically and genetically heterogeneous group of disorders including : multiple endocrine neoplasia (MEN ) type 1 , MEN type 2 A , MEN 4 , benign familial hypocalciuric hypercalcemia , neonatal severe hyperparathyroidism , hyperparathyroidism-jaw tumor syndrome , and familial isolated hyperparathyroidism . These syndromes show mendelian inheritance patterns and the main genes for most of them have been defined . The classic form of PHPT , which presents with hypercalcemia , kidney stones , and bone disease , is no longer common . Currently , there is an increasing interest in the subtle manifestations of PHPT , particularly the cardiovascular and neuropsychiatric manifestations . Parathyroidectomy is the definitive cure for PHPT even though patients with the asymptomatic form of the disease can be followed conservatively .

Diseases
Validation

Diseases presenting "bone disease" symptom

achondroplasia

cushing syndrome

dentinogenesis imperfecta

erdheim-chester disease

familial hypocalciuric hypercalcemia

gm1 gangliosidosis

megacystis-microcolon-intestinal hypoperistalsis syndrome

phenylketonuria

pyomyositis

severe combined immunodeficiency

This symptom has already been validated