Congenital nephrogenic diabetes insipidus presenting as osmotic demyelination syndrome in infancy
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DOI: 10.1097/md.0000000000028552
Abstract: Abstract Rationale: Almost 90% of congenital nephrogenic diabetes insipidus (NDI) cases are caused by mutations in the arginine vasopressin receptor 2 gene, which has X-linked recessive inheritance. Although NDI is commonly diagnosed in early infancy… read more here.
Keywords: osmotic demyelination; congenital nephrogenic; nephrogenic diabetes; diagnosis ... See more keywords
Congenital nephrogenic diabetes insipidus due to the mutation in AVPR2 (c.541C>T) in a neonate: A case report
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DOI: 10.12998/wjcc.v8.i24.6418
Abstract: BACKGROUND Congenital nephrogenic diabetes insipidus (CNDI) is a rare hereditary renal disorder that is caused by mutations in AVPR2 or aquaporin 2 (AQP2). Up to now, there are few reports about CNDI in neonates. Early… read more here.
Keywords: case; cndi; congenital nephrogenic; nephrogenic diabetes ... See more keywords
Congenital nephrogenic diabetes insipidus in the Corpus Hippocraticum: The first description
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DOI: 10.14310/horm.2002.1736
Abstract: In congenital nephrogenic diabetes insipidus (cNDI), polyuria and polydipsia are present from birth, as the kidney is unable to concentrate urine despite elevated concentrations of the antidiuretic hormone arginine-vasopressin.1 In ancient Greek medicine, physiology was,… read more here.
Keywords: corpus hippocraticum; hippocraticum first; insipidus corpus; congenital nephrogenic ... See more keywords
Case Report: A Case of Congenital Nephrogenic Diabetes Insipidus Caused by Thr273Met Mutation in Arginine Vasopressin Receptor 2
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2021.707452
Abstract: Congenital nephrogenic diabetes insipidus (CNDI) is a rare hereditary tubular dysfunction caused mainly by X-linked recessive inheritance of AVPR2 gene mutations. Pathogenic genes are a result of mutations in AVPR2 on chromosome Xq28 and in… read more here.
Keywords: case; report; congenital nephrogenic; nephrogenic diabetes ... See more keywords