Four Japanese Patients with Congenital Nephrogenic Diabetes Insipidus due to the AVPR2 Mutations

Table 1

Clinical characteristics of 4 patients with congenital nephrogenic diabetes insipidus and AVPR2 mutations.

	Case 1	Case 2	Case 3	Case 4
Sex	Male	Male	Male	Female
AVPR2 mutation	c.299_300insA; p.K100KfsX91	c.316C > T; p.R106C	c.296G > A; p.W99X	c.296G > A; p.W99X
Age	3 mo	19 mo	4 y	4 y
Symptoms	Polydipsia, polyuria, poor body weight gain, vomiting, fever	Polydipsia, polyuria, poor body weight gain, low-grade fever	Polydipsia, polyuria	Polydipsia, polyuria
Laboratory data
Serum Na (mEq/L)	162	139	138	141
ADH (pmol/L)	29.4	12.7	53.1	6.2
Plasma osmolality (mOsm/L)	325	280	278	283
Urine osmolality (mOsm/L)	183	74.0	51.0	175
Urologic complications	Mild hydronephrosis (right kidney)	Calcification (right kidney), mild hydronephrosis (left kidney)	None	None
Current treatment	HCTZ SP potassium supplement IDM	TCM SP sodium restriction	HCTZ potassium supplement IDM	HCTZ potassium supplement IDM

Time of diagnosis; normal range: 0.9–4.6 pmol/L. ADH, plasma antidiuretic hormone; HCTZ, hydrochlorothiazide; SP, spironolactone; TCM, trichlormethiazide; IDM, indomethacin.