Walden U, Weissörtel R, Corria Z, Yu D, Weinstein L, Kruse K, Dörr H G
Division of Paediatric Endocrinology, University Hospital for Children and Adolescents, Erlangen, Germany.
Eur J Pediatr. 1999 Mar;158(3):200-3. doi: 10.1007/s004310051048.
Pseudohypoparathyroidism (PHP) type la is characterized by multihormone resistance and a constellation of somatic features referred to as Albright hereditary osteodystrophy. Several mutations in the gene coding for the Gs alpha subunit (GNAS1) have been described. Clinical symptoms are heterogeneous and initially laboratory parameters may be normal. We identified a 4 base pair deletion within GNAS1 in two affected siblings with PHP type la and their mother with presumed pseudo PHP. The female proband was diagnosed after an episode of apnoea and seizures. The younger brother was asymptomatic during infancy and had normal plasma parameters. PHP was diagnosed at the age of 4.4 years. Regular check-ups of siblings in families with index cases are therefore important. Molecular genetic analyses or biochemical screening for stimulatory guanine nucleotide binding protein defects should be performed.
Different symptoms may be seen in patients with the same mutation causing pseudohypoparathyroidism or pseudopseudohypoparathyroidism. Therefore, clinical and biochemical investigations should be performed in all family members with an index patient.
I型假性甲状旁腺功能减退症（PHP）以多激素抵抗和一系列称为奥尔布赖特遗传性骨营养不良的躯体特征为特点。已描述了编码Gsα亚基（GNAS1）的基因中的几种突变。临床症状具有异质性，最初实验室参数可能正常。我们在两名患有I型PHP的患病兄弟姐妹及其疑似假性PHP的母亲的GNAS1基因中发现了一个4个碱基对的缺失。女性先证者在一次呼吸暂停和癫痫发作后被诊断出来。弟弟在婴儿期无症状，血浆参数正常。4.4岁时被诊断为PHP。因此，对有索引病例的家庭中的兄弟姐妹进行定期检查很重要。应进行分子遗传学分析或针对刺激性鸟嘌呤核苷酸结合蛋白缺陷的生化筛查。
相同突变导致假性甲状旁腺功能减退症或假性假性甲状旁腺功能减退症的患者可能出现不同症状。因此，应对所有有索引患者的家庭成员进行临床和生化检查。
