A Family Case of Nephrogenic Diabetes Insipidus
|Title:||A Family Case of Nephrogenic Diabetes Insipidus|
|Authors:||Okayasu, Takako; Shigihara, Kazue; Kobayashi, Norio; Ishikawa, Akashi; Fukushima, Naoki; Takase, Aiko; Hattori, Satoshi; Nakajima, Takeo; Shishido, Tetsuo; Agatsuma, Yoshinori|
|Publisher:||Tohoku Journal of Experimental Medicine|
|Date Published:||October 01, 1990|
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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)
Patient 1 was two months old when first presented to the authors. He had a history of vomiting and fever, and was dehydrated. His blood serum had a high concentration of solutes, such as sodium. Patient 2, the younger brother, was admitted to the hospital at nine days of age due to failure to gain weight. He too had high blood concentrations of solutes such as sodium.
Both patients were given water deprivation tests. Water intake was restricted for four hours, urine samples taken hourly and body weight measured hourly. After the four-hour period, both boys were administered DDAVP, a synthetic analog of AVP. Neither responded to DDAVP and this indicated the X-linked form of NDI.
The authors studied the boys' extended family to further determine the NDI inheritance pattern. They found the mother was an NDI carrier, and concluded that NDI was inherited in an X-linked recessive manner in this family.
Infants generally can not indicate thirst or get water to alleviate it, so it is important that they are given water at regular, frequent intervals. A low-solute diet, with restricted protein and salt intake, helps reduce polyuria somewhat. Diuretics, particularly chlorothiazide, also reduce polyuria somewhat, but they deplete the body of potassium. The combination of hydrochlorothiazide and amiloride can help reduce potassium depletion somewhat while reducing polyuria. Unfortunately, this combination did not decrease patient 1's urine volume.