Goitre and hearing impairment in a patient with Pendred syndrome

被引：0

作者：

Arwert, L. I. ^{[1
]}

Sepers, J. M. ^{[1
]}

机构：

[1] Med Ctr Alkmaar, Dept Internal Med & Endocrinol, NL-1815 JD Alkmaar, Netherlands

来源：

NETHERLANDS JOURNAL OF MEDICINE | 2008年 / 66卷 / 03期

关键词：

deafness; goitre; Pendred syndrome; thyroid dysfunction;

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

A case is described here of a young euthyroid woman with a goitre and hearing impairment. Perchlorate discharge test showed increased washout of iodine. Genetic analysis confirmed the diagnosis of Pendred syndrome as a mutation in the Pds gene was found. The patient was treated with potassium iodine orally. During follow-up there where no symptoms of hyperthyroidism and the size of the goitre decreased.

引用

页码：118 / 120

页数：3

共 3 条

[1] Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4
Coyle, B
Coffey, R
Armour, JAL
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Hochberg, Z
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Britton, K
Pembrey, M
Reardon, W
Trembath, R
[J]. NATURE GENETICS, 1996, 12 (04) : 421 - 423
[2] Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome
Everett, LA
Belyantseva, IA
Noben-Trauth, K
Cantos, R
Chen, A
Thakkar, SI
Hoogstraten-Miller, SL
Kachar, B
Wu, DK
Green, ED
[J]. HUMAN MOLECULAR GENETICS, 2001, 10 (02) : 153 - 161
[3] PENDRED V, 1896, LANCET, P532

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