中华皮肤科杂志 ›› 2020, Vol. 53 ›› Issue (3): 220-222.doi: 10.35541/cjd.20190088

• 研究报道 • 上一篇    下一篇

以早发性皮肤结节为诊断线索的假性甲状旁腺功能减退Ⅰa型二例临床特点和基因分析

李云玲1    郑惠文1    李寅1    朱坤2    顾伟忠2    李薇1    郭小璇1    黄春兰1    周沙1    吴蔚3    董关萍3   

  1. 1浙江大学医学院附属儿童医院皮肤科，杭州  310052；2浙江大学医学院附属儿童医院病理科，杭州  310052；3浙江大学医学院附属儿童医院内分泌科，杭州  310052
  • 收稿日期:2018-12-07 修回日期:2019-06-15 发布日期:2020-03-03
  • 通讯作者: 董关萍 E-mail:dgpxlx@zju.edu.cn

Clinical characteristics and genetic analysis of two cases of pseudohypoparathyroidism typeⅠa with early-onset skin nodules as the diagnostic clue

Li Yunling1, Zheng Huiwen1, Li Yin1, Zhu Kun2, Gu Weizhong2, Li Wei1, Guo Xiaoxuan1, Huang Chunlan1, Zhou Sha1, Wu Wei3, Dong Guanping3   

  1. 1Department of Dermatology, The Children′s Hospital, Zhejiang University School of Medicine, Hangzhou 310052, China; 2Department of Pathology, The Children′s Hospital, Zhejiang University School of Medicine, Hangzhou 310052, China; 3Department of Endocrinology, The Children′s Hospital, Zhejiang University School of Medicine, Hangzhou 310052, China
  • Received:2018-12-07 Revised:2019-06-15 Published:2020-03-03
  • Contact: Dong Guanping E-mail:dgpxlx@zju.edu.cn

PDF

2

PDF (Mobile)

0

摘要： 分析2例以早发性皮肤结节为诊断线索的假性甲状旁腺功能减退Ⅰa型临床特点和基因突变。2例患儿均为男性，发病年龄分别为2个月和3个月，均以早发性皮肤结节为主要临床表现，兼有圆脸、短颈、早期肥胖等临床特点；皮损组织病理检查均显示皮下异位成骨。例1血钙降低，血磷升高，甲状旁腺激素（PTH）水平升高，基因测序发现GNAS基因第5外显子第399位T碱基缺失杂合突变（c.399delT）。例2血钙、血磷正常，早期PTH正常，基因测序显示GNAS 基因第9外显子第939位T碱基缺失杂合突变（c.939delT），随访1年发现患儿血PTH升高。2例患儿均确诊为假性甲状旁腺功能减退Ⅰa型，补充维生素D3后，无新发皮肤结节，血钙、血磷恢复正常。

关键词: 假性甲状旁腺功能减退症, 胆骨化醇, DNA突变分析, 皮肤表现, GNAS基因

Abstract: Clinical features of and genetic mutations in two cases of pseudohypoparathyroidism type Ⅰa（PHPⅠa） with early-onset skin nodules were analyzed. Both of the two patients were males, and their ages at onset were 2 and 3 months respectively. They both presented with early-onset skin nodules as the main clinical manifestation, and were clinically characterized by a round face, short neck and early obesity. Histopathological examination of skin lesions showed subcutaneous ectopic osteogenesis in both patients. The first patient had low blood calcium, high blood phosphorus, high parathyroid hormone （PTH）, and gene sequencing showed a heterozygous mutation c.399delT causing a T base deletion at position 399 in exon 5 of the GNAS gene. The second patient had normal blood calcium and phosphorus levels as well as normal PTH levels at early stage, and gene sequencing showed a heterozygous mutation c.939delT causing a T base deletion at position 939 in exon 9 of the GNAS gene. The blood PTH level was found to increase in the second patient after 1-year follow-up. Both the patients were confirmedly diagnosed with PHPⅠa. After treatment with vitamin D3, no new skin nodules occurred, and the blood calcium and phosphorus levels returned to normal.

Key words: Pseudohypoparathyroidism, Cholecalciferol, DNA mutational analysis, Skin manifestations, GNAS gene