ArticleEndocrine2004
Clinical characteristics of eight patients with congenital nephrogenic diabetes insipidus.
Article in Endocrine, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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11 citing papers in PubMed, 0 citations in OpenAlex.
- Failure to thrive in children with tubulopathies.Pediatric nephrology (Berlin, Germany) · 2026Review
- Novel AVPR2 mutations and clinical characteristics in 28 Chinese families with congenital nephrogenic diabetes insipidus.Journal of endocrinological investigation · 2021Article
- Hypertensive urgency in nephrogenic diabetes insipidus with concomitant Hinman syndrome.BMJ case reports · 2019Article
- Clinical overview of nephrogenic diabetes insipidus based on a nationwide survey in Japan.Yonago acta medica · 2014Article
- Hereditary nephrogenic diabetes insipidus in Japanese patients: analysis of 78 families and report of 22 new mutations in AVPR2 and AQP2.Clinical and experimental nephrology · 2013Article
- Nephrogenic diabetes insipidus: essential insights into the molecular background and potential therapies for treatment.Endocrine reviews · 2013Review
- Mutations in the AVPR2, AVP-NPII, and AQP2 genes in Turkish patients with diabetes insipidus.Endocrine · 2012Article
- Article
- Familial forms of diabetes insipidus: clinical and molecular characteristics.Nature reviews. Endocrinology · 2011Review
- Nephrogenic diabetes insipidus: treat with caution.Pediatric nephrology (Berlin, Germany) · 2009Article
- Growth failure in an infant with congenital nephrogenic diabetes insipidus during sodium restriction.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2007Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital nephrogenic diabetes insipidus (NDI) is characterized by the insensitivity of the distal nephron to arginine vasopressin. Clinical knowledge of this disease is based largely on case reports. For this study, we investigated the clinical findings of eight patients in terms of age at onset, age at diagnosis, main complaint, results of physical examination, the diagnosis, the effect of treatment, kidney function, and presence or absence of gene defects. The main complaints of all eight cases at initial examination were unknown fever, failure to thrive, and short stature. Polyuria and polydipsia are not always the chief complaints with congenital NDI. In one case, diabetes insipidus could be diagnosed based only on the results of a 5% hypertonic saline test. In six cases, we found abnormalities in the V2 receptor gene. Initially, trichlormethiazide therapy was shown to have a significant effect on polyuria; however, this effect decreased over time. In one patient with partial NDI, the addition of trichlormethiazide twice a day to 1-desamino-8-D-arginine vasopressin increased urine osmolality in the morning and caused nocturia to disappear. Results of 99mTc-diethylenetriamine pentaacetic acid kidney scintigraphy revealed a slight decrease in glomerular filtration rate in three patients. No patient experienced serious renal dysfunction.
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