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Deaths: final data for 2004.死亡情况：2004年最终数据。
Natl Vital Stat Rep. 2007 Aug 21;55(19):1-119.
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Increase in congenital hypothyroidism in New York State and in the United States.纽约州及美国先天性甲状腺功能减退症发病率上升。
Mol Genet Metab. 2007 Jul;91(3):268-77. doi: 10.1016/j.ymgme.2007.03.012. Epub 2007 May 23.
3
Screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism: identification of a novel PAX8 mutation in dominantly inherited early-onset non-autoimmune hypothyroidism.在一个由170名先天性和早发性甲状腺功能减退症患者组成的捷克队列中筛查转录因子突变：在显性遗传的早发性非自身免疫性甲状腺功能减退症中鉴定出一种新的PAX8突变
Eur J Endocrinol. 2007 May;156(5):521-9. doi: 10.1530/EJE-06-0709.
4
Pax2 and pax8 regulate branching morphogenesis and nephron differentiation in the developing kidney.Pax2和Pax8在发育中的肾脏中调节分支形态发生和肾单位分化。
J Am Soc Nephrol. 2007 Apr;18(4):1121-9. doi: 10.1681/ASN.2006070739. Epub 2007 Feb 21.
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Congenital hypothyroidism in association with Caroli's disease and autosomal recessive polycystic kidney disease: patient report.先天性甲状腺功能减退症合并卡罗里病和常染色体隐性多囊肾病：病例报告
J Pediatr Endocrinol Metab. 2005 Mar;18(3):315-8. doi: 10.1515/jpem.2005.18.3.315.
6
High prevalence of extrathyroid malformations in a cohort of Brazilian patients with permanent primary congenital hypothyroidism.一组患有永久性原发性先天性甲状腺功能减退症的巴西患者中甲状腺外畸形的高患病率。
Thyroid. 2005 Feb;15(2):165-9. doi: 10.1089/thy.2005.15.165.
7
PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations.人类发育过程中PAX8、TITF1和FOXE1基因的表达模式：对人类甲状腺发育及甲状腺发育不全相关畸形的新见解
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8
Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroid.先天性甲状腺功能减退症家族性病例中PAX8功能丧失性新突变的特征，该病例甲状腺位置正常且大小正常。
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9
Neonatal diabetes mellitus, congenital hypothyroidism, hepatic fibrosis, polycystic kidneys, and congenital glaucoma: a new autosomal recessive syndrome?新生儿糖尿病、先天性甲状腺功能减退症、肝纤维化、多囊肾和先天性青光眼：一种新的常染色体隐性综合征？
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10
Nephric lineage specification by Pax2 and Pax8.由Pax2和Pax8介导的肾谱系特化
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先天性甲状腺功能减退症患儿肾脏和泌尿道异常的患病率增加。

Increased prevalence of renal and urinary tract anomalies in children with congenital hypothyroidism.

作者信息

Kumar Juhi, Gordillo Roberto, Kaskel Frederick J, Druschel Charlotte M, Woroniecki Robert P

机构信息

Division of Pediatric Nephrology, The Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY 10467, USA.

出版信息

J Pediatr. 2009 Feb;154(2):263-6. doi: 10.1016/j.jpeds.2008.08.023. Epub 2008 Sep 27.

DOI:10.1016/j.jpeds.2008.08.023
PMID:18823909
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3749842/
Abstract

OBJECTIVE

We investigated the prevalence of congenital renal and urologic anomalies in children with congenital hypothyroidism to determine whether further renal and urologic investigations would be of benefit.

STUDY DESIGN

Prevalence of congenital hypothyroidism was obtained from the New York State Congenital Malformation Registry. The occurrence of urinary tract anomalies were calculated for children with congenital hypothyroidism and compared to children without congenital hypothyroidism. In addition we obtained congenital hypothyroidism data from New York State newborn screening, and the cases were matched to Congenital Malformation Registry.

RESULTS

Analysis of Congenital Malformation Registry data showed 980 children with congenital hypothyroidism and 3 661 585 children without congenital hypothyroidism born in New York State (1992-2005). Children with congenital hypothyroidism have a significantly increased risk of congenital renal and urological anomalies with the odds ratio (OR) of 13.2 (10.6-16.5). The other significantly increased defects in congenital hypothyroidism were cardiac, gastrointestinal, and skeletal. Analysis of matched data confirmed an increase of congenital renal and urologic anomalies with OR of 4.8 (3.7-6.3).

CONCLUSIONS

Children with congenital hypothyroidism have an increased prevalence of congenital renal and urologic anomalies. We suggest that these children should be evaluated for the presence of congenital renal and urologic anomalies with renal ultrasonography, and that further studies of common genes involved in thyroid and kidney development are warranted.

摘要

目的

我们调查了先天性甲状腺功能减退症患儿先天性肾脏和泌尿系统异常的患病率，以确定进一步的肾脏和泌尿系统检查是否有益。

研究设计

先天性甲状腺功能减退症的患病率来自纽约州先天性畸形登记处。计算先天性甲状腺功能减退症患儿尿路异常的发生率，并与非先天性甲状腺功能减退症患儿进行比较。此外，我们从纽约州新生儿筛查中获取先天性甲状腺功能减退症数据，并将病例与先天性畸形登记处进行匹配。

结果

对先天性畸形登记处数据的分析显示，纽约州（1992 - 2005年）出生的980例先天性甲状腺功能减退症患儿和3661585例非先天性甲状腺功能减退症患儿。先天性甲状腺功能减退症患儿先天性肾脏和泌尿系统异常的风险显著增加，优势比（OR）为13.2（10.6 - 16.5）。先天性甲状腺功能减退症中其他显著增加的缺陷是心脏、胃肠道和骨骼方面的。对匹配数据的分析证实先天性肾脏和泌尿系统异常增加，OR为4.8（3.7 - 6.3）。

结论

先天性甲状腺功能减退症患儿先天性肾脏和泌尿系统异常的患病率增加。我们建议应通过肾脏超声检查评估这些患儿是否存在先天性肾脏和泌尿系统异常，并且有必要进一步研究参与甲状腺和肾脏发育的常见基因。