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首页> 外文期刊>BMC Medical Genetics >Congenital chloride diarrhea and Pendred syndrome: case report of siblings with two rare recessive disorders of SLC26 family genes
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Congenital chloride diarrhea and Pendred syndrome: case report of siblings with two rare recessive disorders of SLC26 family genes

机译：先天性氯化物腹泻和Pendred综合征：兄弟姐妹患者报告SLC26家族基因两种罕见的隐性障碍

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摘要

Congenital chloride diarrhea (CLD; OMIM 214700) is a rare autosomal recessive disorder caused by pathogenic variations in the solute carrier family 26 member A3 (SLC26A3) gene. Without salt substitution, this chronic diarrheal disorder causes severe dehydration and electrolyte disturbances. Homozygous variants in the nearby gene SLC26A4 disrupt anion exchange in the inner ear and the thyroid, causing Pendred syndrome (PDS; OMIM 274600), which is the most frequent form of syndromic deafness. We report an unusual co-occurrence of two rare homozygous mutations in both the SLC26A3 and SLC26A4 genes, causing a rare combination of both CLD and PDS in two siblings. Although the clinical pictures were typical, the combined loss of these anion transporters might modulate the risk of renal injury associated with CLD. Familial presentation of two rare autosomal recessive disorders with loss of function of different SLC26 anion transporters is described. Independent homozygous variants in the SLC26A3 and SLC26A4 genes cause CLD and PDS in siblings, shedding light on co-occurrence of rare recessive traits in the progeny of consanguineous couples.
机译：先天性氯化物腹泻（CLD; OMIM 214700）是由溶质载体家族26构件A3（SLC26A3）基因的致病变异引起的稀有血栓溶膜。没有盐替代，这种慢性腹泻病导致严重的脱水和电解质扰动。附近基因SLC26A4中的纯合子变体破坏内耳和甲状腺中的阴离子交换，导致PENDRED综合征（PDS; OMIM 274600），这是综合征耳聋的最常见的形式。我们在SLC26A3和SLC26A4基因中报告了两个罕见的纯合突变的异常共同发生，导致CLD和PDS在两个兄弟姐妹中的稀有组合。虽然临床图片是典型的，但这些阴离子转运蛋白的结合损失可能调节与CLD相关的肾损伤的风险。描述了两种稀有常染色体隐性疾病的家族性呈现，具有不同SLC26阴离子转运仪的功能丧失。 SLC26A3和SLC26A4基因中的独立纯合变体导致CLD和PDS在兄弟姐妹中，脱落在近亲夫妇后代罕见隐性性状的共同发生。

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