1998 Global Conference Proceeding
March 02 - 04, 1998
|Conference:||1998 Global Conference|
|Title:||Nephrogenic Diabetes Insipidus in a Palestine Sibship|
|Authors:||Mallmann, Rudolf; van Lieburg, Angenita; Monnens, Leo A.H.|
|Institutions:||Elisabeth-Krankenhaus, University of Nijmegen, University Hospital Nijmegen|
At age 6 weeks the third son of an otherwise healthy family of Palestine descent presented with feeding difficulties, insufficient weight gain, and fever. Polyuria with low urine osmolality and a decrease of body temperature after administration of large fluid volumes were noticed. The diagnosis of NDI was only made at the age of 7 months when he was seen in our hospital with severe dehydration and hypernatremia. Intravenous administration of lysine vasopressin did not result in an increase of urine osmolality. Despite several treatment modalities over the years including indomethacin and hydrochlorothiazide his fluid needs have always been very high. Now, as an adult, he drinks 7 - 10 liters/day without any medication.
In his niece, the daughter of his older brother, NDI was diagnosed at age 5 weeks during her first attack of hypersalemic dehydration. Rehydration of this young girl was difficult, covering a period of several weeks. Neither indomethacin nor hydrochlorothiazide alone or in combination did alter the girl's fluid demands which were about 2.5 liters at age 4 months. In both patients a C369 deletion in the aquaporin 2 gene could be demonstrated. The asymptomatic parents and brothers of the first patient as well as the mother of the young girl were found to be heterozygous for this defect. His sister was homozygous for the normal allele.