Minami J, On K, Inada H, Ono H, Ishimitsu T, Matsuoka H
Department of Medicine, Division of Hypertension and Cardiorenal Disease, Dokkyo University School of Medicine, Tochigi, Japan.
Nihon Jinzo Gakkai Shi. 2001;43(1):35-8.
Congenital nephrogenic diabetes insipidus is a rare disorder in which the kidney is insensitive to the antidiuretic hormone, vasopressin. In most cases, a mutation in the vasopressin type 2(V2) receptor gene is the genetic cause of the disease. So far, few cases of congenital nephrogenic diabetes insipidus with hypertension have been reported. We report one male case of congenital nephrogenic diabetes insipidus accompanied by hypertension. The patient was a 24-year-old man who had suffered from polyuria and polydipsia since infancy and had been found to have hypertension at about 16 years. He was admitted to hospital in May 2000 for investigation of polyuria and hypertension with a high plasma level of renin activity of 10.4 ng/ml/hr. On physical examination, the blood pressure was 150/90 mmHg and the daily urinary output was 18.5 l. There was no change in urine volume and urine osmolality after an intramascular injection of vasopressin and water deprivation. The blood pressure and plasma renin activity were increased from 127/73 mmHg to 146/87 mmHg and from 4.9 ng/ml/hr to 6.1 ng/ml/hr, respectively, by a 4-hour dehydration test. He was found to have a C-to-T transition at nucleotide position 675 by sequencing analysis of the V2 receptor gene. After administration of hydrochlorothiazide, both the blood pressure and urine volume were reduced. Consequently, it was suggested that activation of the renin-angiotensin system by dehydration, at least in part, contributed to high blood pressure in this case.
先天性肾性尿崩症是一种罕见的疾病，其中肾脏对抗利尿激素血管加压素不敏感。在大多数情况下，血管加压素2型（V2）受体基因突变是该疾病的遗传原因。到目前为止，很少有先天性肾性尿崩症伴高血压的病例报道。我们报告一例先天性肾性尿崩症伴高血压的男性病例。该患者为24岁男性，自婴儿期起就患有多尿和烦渴，约16岁时被发现患有高血压。他于2000年5月因多尿和高血压入院检查，血浆肾素活性高达10.4 ng/ml/hr。体格检查时，血压为150/90 mmHg，每日尿量为18.5升。肌肉注射血管加压素和禁水后，尿量和尿渗透压没有变化。通过4小时的脱水试验，血压和血浆肾素活性分别从127/73 mmHg升高到146/87 mmHg，从4.9 ng/ml/hr升高到6.1 ng/ml/hr。通过对V2受体基因的测序分析，发现他在核苷酸位置675处有一个C到T的转变。服用氢氯噻嗪后，血压和尿量均降低。因此，提示脱水至少部分激活肾素-血管紧张素系统导致了该病例的高血压。
