ArticleWorld journal of clinical cases2020
Congenital nephrogenic diabetes insipidus due to the mutation in
Article in World journal of clinical cases, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Who cites it
1 citing paper in PubMed, 1 citations in OpenAlex.
- Infant Nephrogenic Diabetes Insipidus: Challenges Leading to Delayed Management.Case reports in medicine · 2026Article
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5 authors at 1 institution in 1 country.
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Abstract
backgroundCongenital nephrogenic diabetes insipidus (CNDI) is a rare hereditary renal disorder that is caused by mutations in CASE SUMMARY: On February 1, 2020, a male neonate was hospitalized 17 d after birth due to a 7 d period of pyrexia. The patient's symptoms included recurrent pyrexia, hypernatremia and hyperchloremia, which were difficult to treat. The patient was fed on demand, and water was additionally provided between milk intakes. A combination treatment of hydrochlorothiazide and amiloride was administered. After the treatment, body temperature and electrolyte levels returned to normal, the volume of urine was significantly reduced and the patient was subsequently discharged. Genetic tests confirmed that the patient carried the
conclusionCNDI in the neonatal period is rare, and its clinical manifestations are unspecific with some patients merely showing recurrent fever and electrolyte disturbance. Genetic testing of
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