From: Gitelman syndrome in a South African family presenting with hypokalaemia and unusual food cravings
Participants | A | B | D | E | F | C | G | |
---|---|---|---|---|---|---|---|---|
Blood | Ref ranges/units | Affected | Affected | Affected | Affected | Affected | Unaffected | Unaffected |
Sodium | 136–146 mmol/L | 141 | 143 | 142 | 140 | 146 | 137 | 133 |
Potassium (lowest) | 3.5–5.1 mmol/L | 2.8 | 2.6 | 2.8 | 2.8 | 2.9 | 3.6 | 4.0 |
Potassium (latest) | 3.5–5.1 mmol/L | 3.2 | 3.0 | 3.0 | 3.2 | 4.1 | 4.1 | 4.4 |
Chloride | 101–109 mmol/L | 100 | 100 | 103 | 101 | 103 | 102 | 102 |
Urea | 2.8–7.2 mmol/L | 5.8 | 7.7 | 11.7 | 9.9 | 13.5 | 6.4 | 6.4 |
Creatinine | 59–104 μmol/L | 94 | 82 | 86 | 92 | 111 | 88 | 48 |
eGFR | mL/min/1.73Â m2 | 66a | 82a | 57 | 55 | 62a | 98 | 102 |
Corrected calcium | 2.20–2.65 mmol/L | 2.33 | 2.19 | 2.40 | 2.32 | 2.30 | 2.26 | 2.23 |
Albumin | 35–52 g/L | 41 | 42 | 40 | 44 | 43 | 45 | 43 |
Magnesium | 0.73–1.06 mmol/L | 0.85 | 0.96 | 0.83 | 0.77 | 0.85 | 1.00 | 0.97 |
Phosphate | 0.81–1.45 mmol/L | 1.08 | 0.78 | 1.00 | 1.00 | 0.96 | 1.32 | 1.43 |
Alkaline phosphatase | 30–120 IU/L | 36 | 43 | 70 | 71 | 47 | 52 | 111 |
Cortisol | am 184–618; pm <276 nmol/L | 291 | 385 | 203 | 204 | 318 | 145 | 125 |
pH | 7.36–7.44 | 7.37 | 7.38 | 7.41 | 7.35 | 7.35 | 7.42 | 7.39 |
Bicarbonate | 23–27 mmol/L | 32.3 | 30.3 | 30.0 | 30.0 | 31.6 | 27.0 | 26.0 |
Renin | 2.7–27.7 ng/L (erect) | 46.4 | 40.3 | 9.1 | 41.4 | 68.3 | 10.6 | Not done |
Aldosterone | 49–1066 pmol/L | 152 | 146 | 336 | 357 | 231 | 273 | Not done |
Aldo:renin ratio | <118 pmol/ng | 3.3 | 3.6 | 36.9 | 8.6 | 3.4 | 25.8 | Not done |
Urine | ||||||||
 FE sodium | % | 1.8 | 1.6 | 0.1 | 0.8 | 0.8 | 0.3 | 0.1 |
 FE potassium | % | 17.5 | 25.5 | 18.3 | 53.0 | 23.3 | 5.3 | 3.1 |
 FE chloride | % | 1.6 | 2.2 | 0.5 | 2.4 | 1.3 | 0.5 | 0.1 |
 FE magnesium | % | 1.4 | 2.5 | 0.7 | 4.5 | 3.5 | 0.9 | 0.4 |
 K:creat ratio | <1.5 mmol/mmol in hypokalaemia | 6.0 | 9.3 | 6.4 | 18.4 | 8.6 | 2.5 | 6.4 |
 Ca:creat ratio | mmol/mmol | 0.04 | 0.03 | 0.07 | 0.18 | 0.07 | 0.23 | 0.22 |
 Mg:creat ratio | mmol/mmol | 0.13 | 0.03 | 0.07 | 0.38 | 0.27 | 0.10 | 0.08 |
 Osmolality | mOsm/kg | 813 | 888 | 638 | 539 | 1049 | 968 | 725 |
 pH | 6.0 | 8.0 | 7.0 | 7.5 | 6.5 | 5.0 | 5.0 | 5.0 |
 Protein:creat ratio | <0.2 mg/mg | 0.15 | 0.12 | 0.12 | 0.18 | 0.08 | 0.09 | 0.08 |