A Family Case of Nephrogenic Diabetes Insipidus

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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
Reference Number: 335
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Two brothers, patient 1 with fever and vomiting, and patient 2 with failure to gain weight were studied. After 4 hr of water deprivation test, the urinary osmolality of the patient 1 was only 105 mOsm/liter and his body weight showed a 4.6% reduction. In response to desamino-8-D arginine vasopressin intranasal administration, no significant elevation of urinary osmolality of patient 1 occurred. After low dose vasopressin tests, the maximal urinary osmolality of their father was in the normal range, but that of their mother was below the normal range. Moreover, the patients showed no significant increase of urinary osmolality after the same tests. The brothers were diagnosed as nephrogenic diabetes insipidus (NDI) and their mother was diagnosed as a carrier. An early diagnosis of NDI is important, since adequate managements such as low-solute diet with restricted protein and salt intake or such as water intake at frequent intervals can prevent the hyperosmolality which would develop the delayed mental and physical developments. The usefulness of the combination of indomethacin with thiazide diuretics is described.
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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)

Okayasu, et al., report on two brothers, both of whom they diagnosed as having nephrogenic diabetes insipidus (NDI). NDI is a disorder characterized by the kidney's inability to respond to the antidiuretic hormone, arginine vasopressin (AVP). Thus, the kidneys are unable to concentrate urine or reabsorb water passing through the kidney collecting duct. The resultant symptoms are polyuria (the chronic passage of large volumes of urine) and polydipsia (chronic, excessive thirst). NDI in infants, if undiagnosed and untreated, could lead to bouts of severe dehydration which could lead to mental and physical retardation, and even death.

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.