BioMed Research International / 2011 / Article / Tab 1

Research Article

Identification of Missense Mutation (I12T) in the BSND Gene and Bioinformatics Analysis

Table 1

Clinical and biochemical features of normal and affected members of studied family.

FeaturesReference rangesNormal members Affected members from the family with hearing loss
V : 3V : 5V : 1VI : 3VI : 5

Age (y)3035451210
Other symptoms of BSIVnonoNoNoNo
Na (mmol/L)136–148141140135137134
S K (mmol/L)3.6–5.03.94.63.43.53.5
S Cl (mmol/L)104–11410510797102101
S Mg (mg/dl)1.9–2.52.32.22.01.92.1
S HCO3 (mmol/L)17.5–27.530.027.530.030.231.0
S Ca (mg/dl)8.6–10.58.79.59.29.810.0
S Creatinine (mg/dL)0.85–1.350.70.80.60.50.4
Renin (ng/ml/hr)0.15–2.330.310.62.132.032.53
S Aldosterone (ng/dL)1–6; 4–31>1.7f13.010.311.96.3
S Osmolality (mosm/kg)275–295293289281290287
Na (mmol/L)30–15017.5154.639.116.913.3
U K (mmol/L)20–673.491.3112.138.434.12
U Ca (mg/dL)6.016.015.311.313.0
U Mg (mg/dL)3.614.43.12.41.12
U Cl (mmol/L)46–16816.3174.346.5619.210.5
Uosmolality (mosm/kg)50–14007490317910556
NephrocacinosisSAbsentAbsentAbsentAbsentAbsent

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