neonatal severe primary hyperparathyroidism

Epidemiology

rare

Pathology

• Ca+2-sensing receptor (CASR) in kidney with diminished activity

Genetics

• autosomal recessive
• associated with defects in CASR
• may be homozygous form of familial hypocalciuric hypercalcemia

Clinical manifestations

• life-threatening disorder
• skeletal demineralization
• parathyroid hyperplasia

Laboratory

• very high serum Ca+2

More general terms

• primary hyperparathyroidism
• genetic disease of the endocrine system
• neonatal disorder or disease

Database

• OMIM: https://mirror.omim.org/entry/239200