A severe phenotype of Gitelman syndrome with increased prostaglandin excretion and favorable response to indomethacin

Barbara McGillivray; Cherry Mammen; Mathew Wallis; Nicholas Larkins

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A severe phenotype of Gitelman syndrome with increased prostaglandin excretion and favorable response to indomethacin

机译：Gitelman综合征的严重表型，前列腺素排泄增加，对消炎痛的反应良好

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Our understanding of Gitelman syndrome (GS) and Bartter syndrome has continued to evolve with the use of genetic testing to more precisely define the tubular defects responsible. GS is caused by mutations in the SLC12A3 gene encoding the Na+–Cl? co-transporter of the distal convoluted tubule (NCCT) and tends to be associated with a milder salt-losing phenotype. We describe two female siblings presenting in infancy with a severe salt-losing tubulopathy and failure to thrive due to compound heterozygous mutations in the SLC12A3 gene encoding the NCCT. Both children were treated with indomethacin resulting in improved linear growth and polyuria. Some atypical biochemical findings in our cases are discussed including raised urinary prostaglandin (PGE2) excretion that normalized with intravenous fluid repletion.

机译：随着对基因检测的使用，我们对吉特曼综合症（GS）和巴特综合症的理解继续发展，以更精确地定义引起肾小管的缺陷。 GS是由远端螺旋小管（NCCT）的Na + –Cl ？共同转运蛋白编码的SLC12A3基因突变引起的，并倾向于与盐度较轻有关丧失表型。我们描述了在婴儿期出现严重失盐性肾小管病的两个女性兄弟姐妹，由于编码NCCT的SLC12A3基因中的复合杂合突变而无法壮成长。两名儿童均使用吲哚美辛治疗，导致线性生长和多尿症改善。讨论了我们病例中的一些非典型生化发现，包括尿液中前列腺素（PGE2）升高，并通过静脉补液正常化。

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《Clinical kidney journal.》 |2014年第3期|共5页
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Barbara McGillivray; Cherry Mammen; Mathew Wallis; Nicholas Larkins;
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中图分类泌尿科学（泌尿生殖系疾病）;
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1. A severe phenotype of Gitelman syndrome with increased prostaglandin excretion and favorable response to indomethacin [J] . LarkinsN., WallisM., McGillivrayB., Clinical kidney journal . 2014,第3期

机译：Gitelman综合征的严重表型，前列腺素排泄增加，对消炎痛的反应良好
2. A novel compound heterozygous mutation of Gitelman's syndrome in Japan, as diagnosed by an extraordinary response of the fractional excretion rate of chloride in the trichlormethiazide loading test [J] . UedaK., MakitaN., KawarazakiH., Internal medicine. . 2012,第12期

机译：日本吉特曼综合征的一种新的复合杂合突变，由三氯甲叠氮化物负荷试验中氯化物的分数排泄率的异常响应所诊断
3. A Novel Compound Heterozygous Mutation of Gitelman's Syndrome in Japan, as Diagnosed by an Extraordinary Response of the Fractional Excretion Rate of Chloride in the Trichlormethiazide Loading Test [J] . Kohei Ueda, Noriko Makita, Hiroo Kawarazaki, Internal medicine. . 2012,第12期

机译：日本吉特曼综合征的一种新型复合杂合突变，由三氯甲叠氮化物负荷试验中氯化物的分数排泄速率的异常响应诊断
4. Characterization of naturally occurring severe combined immunodeficiency (SCID) in a line of pigs and their response to porcine reproductive and respiratory syndrome virus (PRRSV) infection. [D] . Cino-Ozuna, Ada Giselle. 2016

机译：猪中自然发生的严重联合免疫缺陷症（SCID）的特征及其对猪繁殖与呼吸综合征病毒（PRRSV）感染的反应。
5. A severe phenotype of Gitelman syndrome with increased prostaglandin excretion and favorable response to indomethacin [O] . Nicholas Larkins, Mathew Wallis, Barbara McGillivray, 2014

机译：Gitelman综合征的严重表型前列腺素排泄增加对消炎痛的反应良好
6. A severe phenotype of Gitelman syndrome with increased prostaglandin excretion and favorable response to indomethacin [O] . N. Larkins, M. Wallis, B. McGillivray, 2014

机译：Gitelman综合征的严重表型，具有增加的前列腺素排泄和对吲哚美辛的有利反应

A severe phenotype of Gitelman syndrome with increased prostaglandin excretion and favorable response to indomethacin

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