Familial Nephrogenic Diabetes Insipidus: Report of Two Families
| Title: | Familial Nephrogenic Diabetes Insipidus: Report of Two Families |
|---|---|
| Authors: | Lee, Jing-Sheng; Tsai, Wem-Yu; Tsai, Wen-Shiung; Tsau, Yong-Kwei; Chen, Chiung-Hui; Wang, Tso-Ren |
| Publisher: | Journal of the Formosan Medical Association |
| Date Published: | June 01, 1992 |
| Reference Number: | 303 |
Familial nephrogenic diabetes insipidus is a hereditary disorder, generally transmitted by sex-linked recessive genes with varying degrees of penetrance in females. The onset of this disorder occurs in infancy, usually characterized by unexplained fever, recurrent dehydration and failure to thrive. If left unrecognized, recurrent hyperosmolality and hypernatremia will lead to retarded growth and neurologic sequelae. Intracranial hemorrhage, consciousness disturbance and even mortality may occur in cases of acute dehydration episodes. We report on two families with nephrogenic diabetes insipidus, whose various symptoms and signs were studied to establish an accurate diagnosis. In pediatric practices, it is very important to recognize early those infants with obscure symptoms in order to preserve their psychomotor development and growth potential.
This translation by the NDI Foundation is to assist the lay reader. To provide a clear, accessible interpretation of the original article, we eliminated or simplified some technical detail and complicated scientific language. We concentrated our translation on those aspects of the article dealing directly with NDI. The NDI Foundation thanks the researchers for their work toward understanding and more effectively treating this disorder.
© Copyright NDI Foundation 2007 (JC)
Jing-Shen Lee, et al., report on two families with NDI. The patient from family A was a 14-month-old boy who had begun to have fevers of unknown cause and failure to thrive in his first week of life. His mother noted polyuria after an episode of acute dehydration at four months. On admission to the hospital, the patient was far below average weight and height, and his developmental milestones were retarded. His urine was not concentrated, and he did not respond to injections of pitressin. After diagnosis of NDI, he was placed on a regime of trichlormethiazide and indomethacin, which reduced his urinary output. The authors were impressed by the boy's catch-up growth in body length and weight. His mother was diagnosed with NDI.
Family B had two young males who were diagnosed with NDI. They displayed several classic NDI infant symptoms: polyuria, polydipsia, unexplained fever, poor feeding, failure to thrive. The first brother, seen at two and one-half years, was well below normal in body weight and length. The second brother, seen at two and one-half months, was still normal in weight and length. Both were placed on a regime of trichlormethiazide and indomethacin, and a low sodium diet. This reduced their urine output and led to an increase in their growth. The first brother, like the patient from family A, quickly approached normal levels of weight and height. The mother of family B was suspected of having NDI.
The onset of congenital NDI occurs in infancy. Symptoms include constipation, failure to thrive, fever, high blood sodium, irritability, polyuria and polydipsia, and bouts of dehydration that, if untreated, could lead to physical and mental retardation, and even death. The authors emphasize that NDI must be diagnosed and treated early to avoid its deleterious effects and to give the patients the opportunity to develop normally. The aims of treatment are to reduce urinary output and prevent dehydration. Diet control with salt and protein restriction, and a regime of thiazide and indomethacin may have some benefits. An adequate water supply to prevent dehydration is mandatory, especially during infancy when the patients cannot indicate thirst or get water themselves.