Pseudohypoparathyroidism

Pseudohypoparatyreos

Svensk definition

Ett ärfltigt tillstånd som påminner om hypoparatyreos, men orsaken är snarare respons till bisköldkörtelhormoner och inte brist på bisköldkörtelhormoner. Kännetecknas av hypokalcemi och hyperfosfatemi och är vanligtvis associerat med kortväxthet, fetma, korta metakarpalben smat ektopisk kalciferieng.

Engelsk definition

A hereditary syndrome clinically similar to HYPOPARATHYROIDISM. It is characterized by HYPOCALCEMIA; HYPERPHOSPHATEMIA; and associated skeletal development impairment and caused by failure of response to PARATHYROID HORMONE rather than deficiencies. A severe form with resistance to multiple hormones is referred to as Type 1a and is associated with maternal mutant allele of the ALPHA CHAIN OF STIMULATORY G PROTEIN.

Svenska synonymer

Inga svenska synonymer finns.

Engelska synonymer

Pseudohypoparathyroidisms Pseudohypoparathyroidism, Type Ib Pseudohypoparathyroidisms, Type Ib Type Ib Pseudohypoparathyroidism Type Ib Pseudohypoparathyroidisms PHD1b Pseudohypoparathyroidism Type 1B Pseudohypoparathyroidism Type 1Bs PHD Ib Pseudohypoparathyroidism, Type Ia Pseudohypoparathyroidisms, Type Ia Type Ia Pseudohypoparathyroidism Type Ia Pseudohypoparathyroidisms Albright Hereditary Osteodystrophy Hereditary Osteodystrophy, Albright Osteodystrophy, Albright Hereditary Albright Hereditary Osteodystrophy with Multiple Hormone Resistance PHP Ia PHPIa