2000 Global Researcher Conference Proceeding
March 10 - 12, 2000
| Conference: | 2000 Global Researcher Conference |
|---|---|
| Title: | Growth in males with (well-managed) nephrogenic diabetes insipidus |
| Authors: | Trahms, Cristine; Scott, C. Ronald; Ogata, Beth; Wildin, Robert |
| Institutions: | University of Washington, University of Washington Medical Center, (formerly) Oregon Health Sciences University, MP350 |
Boys with congenital nephrogenic diabetes insipidus (NDI) are usually 'small for age' in height and weight. Little is known about the long-term growth achievement for males with NDI.
A cohort of ten adult males with NDI has been managed by our clinic. Current ages range from 24 to 40 years. Nine of the subjects were diagnosed before 2 months of age. All were treated with chlorothiazide and prescribed dietary sodium restriction of <500 mg/day. Clinic protocol included regular growth measurements, adult renal ultra sound examinations, and intellectual assessments.
Group I. Four subjects have complete data sets. All were diagnosed by 2 months of age and complied with prescribed medications and sodium restriction. As adults they all test within the normal range on IQ studies and normal kidney anatomy ultrasound. Their current ages range between 24 and 37 years of age.
Group II. Three subjects have partial data sets with either intellectual or renal ultrasound data missing. Of this group, one subject suffers from bilateral hydronephrosis associated with non-compliance with treatment; one has short stature as an adult and mild cognitive deficiency attributed to late diagnosis; and one has normal IQ and stature but no renal ultrasound data.  Group III. Three subjects have been lost to follow-up. No adult renal ultrasound or IQ studies are available. However, they were observed to have normal intellectual functioning and to have achieved normal adult stature in late adolescence. Conclusions: Hydronephrosis is uncommon among early-diagnosed males with NDI who comply with long-term treatment with chlorothiazide plus dietary sodium restriction. Normal intellectual function can be attained with early diagnosis and prevention of dehydration. Normal adult height is usually achieved after a delayed pubertal growth spurt. Congenital X-linked nephrogenic diabetes insipidus (NDI) affects male infants and is characterized by insensitivity of the renal concentrating system to the water sparing effects of the antidiuretic hormone arginine vasopressin (ADH or AVP). Individuals affected with NDI have high circulating levels of ADH but do not concentrate urine. Maintenance of water homeostasis requires the consumption of three to five times the usual amount of water. Limitation in water intake could cause hypernatremia and dehydration. In infants, water limitation can precipitate permanent brain damage or death. Beginning in 1960, the treatment protocol consisted of four components:
The clinic at the University of Washington manages 26 males with NDI. A cohort of ten adult males with NDI has reached adulthood. Current ages range from 24 to 40 years. Eight of the subjects were diagnosed before 2 months of age. All were treated with chlorothiazide and prescribed dietary sodium restriction of <500 mg/day. Boys with congenital nephrogenic diabetes insipidus (NDI) are usually 'small for age' in height and weight. Little is known about the long-term growth achievement for males with NDI. A cohort of adult males with NDI (24-37 years of age) is described and provides a picture of clinical outcomes that can be predicted with early diagnosis and consistent treatment:
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