Mutation in the SLC2A9 Gene: A New Family with Familial Renal Hypouricemia Type 2

Table 1

Laboratory findings.

Test		Unit	Value at presentation	Normal range
Serum	CRP	mg/l	3.3	<5
	Creatinine	mg/dl	1.9	0.6–1.3
	Urea	mg/dl	60	17–48
	Uric acid	mg/dl	0.2	3.5–7.2
	Sodium	mmol/l	139	135–145
	Potassium	mmol/l	5.2	3.5–5.0
	Bicarbonate	mmol/l	22	23–29
	Calcium	mmol/l	2.3	2.2–2.5
	Phosphate	mmol/l	0.9	0.8–1.45
	Hemoglobin	g/dl	15.3	13–18
	WBC	/μl	12310	3500–11000
	Neutrophils	/μl	9630	1500–6700
	Platelets	/μl	170000	150000–450000
	LDH	U/l	262	135–225
	CK	U/l	640	40–300
Urine	RBC	/μl	2	<25
	WBC	/μl	20	<25
	Creatinine	g/24h	0.98	0.8–2.5
	Protein	g/24h	0.08	<0.15
	Sodium	mmol/24h	216	40–220
	Potassium	mmol/24h	34	25–125
	Uric acid	mg/24h	234	250–750

Abbreviations: CRP, C-reactive protein; WBC, white blood cell; RBC, red blood cell; LDH, lactate dehydrogenase; CK, creatine kinase.