| A novel mutation in the renal V2 receptor gene in a boy with trisomy 21. | |
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MedLine Citation:
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PMID: 15052464 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We describe for the first time an infant with Down syndrome and congenital nephrogenic diabetes insipidus (NDI). The 11-day-old Japanese boy was admitted with failure to thrive and fever. Polyuria (3,000-3,500 ml/m(2) per day), low urine specific gravity (1.001-1.002), and high plasma arginine vasopressin (AVP) (18.2 pg/ml) suggested NDI. Gene analysis confirmed the diagnosis of congenital NDI due to a novel mutation of the V2 receptor gene (L309P). He also had symptoms of Down syndrome and karyotype analysis of the peripheral lymphocytes revealed trisomy 21. The relationship between pyelectasis and a risk of Down syndrome is discussed. |
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Authors:
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Yasuko Fujisawa; Takeshi Miyamoto; Kyo Furuhashi; Shinichiro Sano; Yuichi Nakagawa; Takehiko Ohzeki |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2004-03-30 |
Journal Detail:
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Title: Pediatric nephrology (Berlin, Germany) Volume: 19 ISSN: 0931-041X ISO Abbreviation: Pediatr. Nephrol. Publication Date: 2004 Jun |
Date Detail:
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Created Date: 2004-05-10 Completed Date: 2004-12-15 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8708728 Medline TA: Pediatr Nephrol Country: Germany |
Other Details:
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Languages: eng Pagination: 609-11 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Hamamatsu University School of Medicine, 431-3192 Hamamatsu, Japan. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Diabetes Insipidus, Nephrogenic
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complications*,
congenital* Down Syndrome / complications* Humans Infant, Newborn Kidney / pathology Male Mutation Pedigree Polymerase Chain Reaction Polyuria / etiology Receptors, Vasopressin / genetics* |
| Chemical | |
Reg. No./Substance:
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0/Receptors, Vasopressin |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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