中华实用儿科临床杂志
中華實用兒科臨床雜誌
중화실용인과림상잡지
Journal of Applied Clinical Pediatrics
2015年
16期
1278-1280
,共3页
假性甲状旁腺功能减退症%Albright遗传性骨营养不良%低钙血症%GNAS1基因%诊断%治疗
假性甲狀徬腺功能減退癥%Albright遺傳性骨營養不良%低鈣血癥%GNAS1基因%診斷%治療
가성갑상방선공능감퇴증%Albright유전성골영양불량%저개혈증%GNAS1기인%진단%치료
Pseudohypoparathyroidism%Albright's hereditary osteodystrothy%Hypocalcemia%GNAS1 gene%Diagnosis%Treatment
假性甲状旁腺功能减退症(PHP)是一种罕见的遗传病,其临床特点以甲状旁腺激素抵抗为主,部分合并典型的Albright遗传性骨营养不良,表现复杂多样,易漏诊或误诊.现重点介绍PHPⅠ型的发病机制、临床表现及诊疗进展,以提高本病的诊断水平.
假性甲狀徬腺功能減退癥(PHP)是一種罕見的遺傳病,其臨床特點以甲狀徬腺激素牴抗為主,部分閤併典型的Albright遺傳性骨營養不良,錶現複雜多樣,易漏診或誤診.現重點介紹PHPⅠ型的髮病機製、臨床錶現及診療進展,以提高本病的診斷水平.
가성갑상방선공능감퇴증(PHP)시일충한견적유전병,기림상특점이갑상방선격소저항위주,부분합병전형적Albright유전성골영양불량,표현복잡다양,역루진혹오진.현중점개소PHPⅠ형적발병궤제、림상표현급진료진전,이제고본병적진단수평.
Pseudohypoparathyroidism(PHP) is a rare genetic disorder.The main character is parathyroid hormone resistance,and some with typical Albright's Hereditary Osteodystrothy malformation.The wide range of PHP symptom spectrum may lead to miss or misdiagnosis.This paper reviewed and summarized the pathogenesis,manifestation and the progress on the diagnosis and treatment of PHP Ⅰ,so as to improve the diagnostic level of this disease.
