Hypoparathyroidism-sensorineural deafness-renal dysplasia syndrome and mutation anaiysis of GATA3 gene
10.3760/cma.j.issn.1000-6699.2015.04.006
- VernacularTitle:甲状旁腺功能减退-感音神经性耳聋-肾发育不良综合征与GATA3基因突变分析
- Author:
Yuqing ZHOU
;
Shuling HUANG
;
Min MAI
;
Shufang HOU
;
Zuanyi ZHONG
- Publication Type:Journal Article
- Keywords:
Hypoparathyroidism-sensorineural deafness-renaldysplasia syndrome;
Diagnosis;
GATA3 gene
- From:
Chinese Journal of Endocrinology and Metabolism
2015;31(4):311-315
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the clinical manifestation of a patient with hypoparathyroidsmsensorineural deafness-renal dysplasia (HDR) syndrome and to sequence the related GATA3 gene of the patient.Methods A 22 year old person with HDR syndrome was reported in regard to clinical manifestation,laboratory examination,and genetic mutation.Some related literatures were reviewed.Results The patient showed tetany,deafness,and positive Chvosteks' and Trousseau' s signs.The initial laboratory studies showed that serum concentration of calcium was lowed and the iPTH level were lower than normal.Binaural pure tone audiometry showed Binaural sensorineural deafness.Colour doppler ultrasound revealed that his right kidney was not observed and the level of creatinine was increased,indicating renal insufficiency.GATA3 mutations on DNA sequence analysis indicated that the 6 exon IVS6-1G-A (G/A heterozygosis splicing),showed the mutation of G to A is in the upstream of the first base in the six exon.After treating with calcium carbonate and vitamin D,the symptoms and signs were improved.Conclusion HDR syndrome is a rare endocrine disease,that should receive more attention in order to avoid missing diagnosis;The IVS6-1G-A as a novel mutation of GATA3 gene,has not been reported so far.
