Congenital Sodium Diarrhea by mutation of the SLC9A3 gene.
Eur J Med Genet
; 62(10): 103712, 2019 Oct.
Article
em En
| MEDLINE
| ID: mdl-31276831
ABSTRACT
Congenital Sodium Diarrhea (CSD) due to SLC9A3 mutation is a rare cause of neonatal diarrhea explained by dysfunction of the Na+/H+ antiporter 3 in intestine. To date only 10 patients have been described. We report a male patient with typical antenatal symptoms (polyhydramnios and intestinal dilation) and neonatal diarrhea with fecal sodium and bicarbonates loss. Next generation sequencing revealed a missense homozygous mutation in exon 6 of the SLC9A3 gene (NM_004174.3c.1039Gâ¯>â¯A, NP_004165.2p.Glu347Lys). Oral electrolytes supplements (Sodium and Bicarbonates) allowed a normal growth to the child currently aged twenty months. CSD symptomatology usually begins during third trimester of pregnancy. Antenatal signs are polyhydramnios and diffuse intestinal dilation. Main differential diagnoses are intestinal obstruction and Congenital Chloride Diarrhea. Diarrhea begins from the first days of life and its severity is variable. Based on the report and on the literature we suggest that non syndromic CSD can be detected during third trimester of pregnancy. With adequate electrolytes supplementation good evolution is possible.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
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Predisposição Genética para Doença
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Diarreia
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Estudos de Associação Genética
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Trocador 3 de Sódio-Hidrogênio
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Erros Inatos do Metabolismo
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Mutação
Tipo de estudo:
Diagnostic_studies
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Prognostic_studies
Limite:
Humans
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Infant
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Male
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article