Table 1.

Clinical and Biochemical Features of Wild-Type, Carriers, and Compound Heterozygotes of Family PKDF815

Features	Reference Ranges	Family Members
		V:22	V:23	VI:14	VI:15	VI:16	VI:17	VI:18
Genotypes		Ta/+	Xb/+	+/+	X/T	X/T	X/T	X/+
Present age (y)		53	40	17	20	16	19	24
Hearing loss		hearing	hearing	hearing	deaf	deaf	deaf	hearing
Other symptoms of BSIVc		no	no	no	no	no	no	no
Sd Na (mmol/L)	136–148	138	143	143	139	141	141	137
S K (mmol/L)	3.6–5.0	4.6	4.0	4.8	3.5	3.6	3.5	4.2
S Cl (mmol/L)	104–114	105	107	106	98	102	103	102
S HCO3 (mmol/ L)	17.5–27.5	27.1	31.0	27.4	29.5	29.5	31.2	26.8
S Mg (mg/dl)	1.9–2.5	2.1	2.4	2.3	2.2	2.0	2.1	2.2
S Ca (mg/dl)	8.6–10.5	8.7	8.9	9.7	9.4	10.1	9.8	9.2
S Creatinine (mg/dl)	0.85–1.35	0.9	0.6	0.9	0.7	0.5	0.6	0.9
Pe Renin (ng/ml/hr)	0.15–2.33	0.199	0.29	5.22	11.64	23.42	12.74	0.83
S Aldosterone (ng/dl)	1–16;f 4–31	3.2	>1.1f	12.0	11.5	12.0	4.2	5.8
S Osmolality (mosm/Kg)	275–295	289	294	287	283	285	284	284
Ug Na (mmol/L)	30–150	32.9	15.5	152.2	37.5	17.3	12.5	65.3
U K (mmol/L)	20–67	9.44	2.5	94.66	11.95	6.33	3.22	28.41
U Cl (mmol/L)	46–168	37.0	14.2	176.1	49	18.2	10.3	76.8
U Mg (mg/dl)		2.1	0.8	22.4	3.8	2.8	1.1	6.5
U Ca (mg/dl)		2.0	<2.0	13.0	6.5	1.5	<2.0	7.4
U osmolality (mosm/Kg)	50–1400	186	70	891	187	103	53	308
Nephrocalcinosis		absent	absent	absent	present	present	present	absent

^ap.I12T.

^bp.E4X.

^cOther symptoms of BSIV are polyhydramnion, premature birth, low birth weight, failure to thrive, polyuria, polydipsia, and nocturnal enuresis.

^d“S” denotes serum.

^e“P” denotes plasma.

^fThere are two normative values for serum aldosterone: 1–16 ng/dl for blood drawn while the patient is supine and 4–31 ng/dl for blood drawn while the patient is standing.

^gUrinary (U) values were determined from spot samples.