Clinical presentation and follow-up of 30 patients with congenital nephrogenic diabetes insipidus

Congenital nephrogenic diabetes insipidus is characterized by insensitivity of the distal nephron to arginine vasopressin. Clinical knowledge of this disease is based largely on case reports. For this study, data were collect ed on clinical presentation and during long-term follow-up of 30 male patie nts with congenital nephrogenic diabetes insipidus. The majority of patient s (87%) were diagnosed within the first 2.5 yr of life. Main symptoms at cl inical presentation were vomiting and anorexia, failure to thrive, fever, a nd constipation Three older patients were diagnosed as a result of events n ot directly related to the disease. Except;for a possibly milder phenotype in patients with a G185C mutation, no clear relationship between clinical a nd genetic data could be found. Most patients were on hydrochlorothiazide-a miloride treatment: without significant side effects. Two patients suffered from severe hydronephrosis with a small rupture of the urinary tract after a minor trauma, and two patients experienced episodes of acute urine reten tion. Height SD scores for age remained below the 50th percentile in the ma jority of patients, whereas weight for height SD scores showed a catch-up a fter several years of underweight.