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 collected on clinical
presentation and during long-term follow-up of 30 male patients with
congenital nephrogenic diabetes insipidus. The majority of patients (87%) were diagnosed within the first 2.5 yr of life. Main symptoms at clinical
presentation were vomiting and
anorexia,
failure to thrive, fever, and constipation. Three older patients were diagnosed as a result of events not directly related to the disease. Except for a possibly milder
phenotype in patients with a G185C mutation, no clear relationship between clinical and
genetic data could be found. Most patients were on
hydrochlorothiazide-
amiloride 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 retention. Height SD scores for age remained below the 50th percentile in the majority of patients, whereas weight for height SD scores showed a catch-up after several years of underweight.