Table 1 Clinical data from members of the South African family with Gitelman syndrome
From: Gitelman syndrome in a South African family presenting with hypokalaemia and unusual food cravings
Participants | A - affected | B - affected | D - affected | E - affected | F - affected | C - unaffected | G - unaffected |
|---|---|---|---|---|---|---|---|
Age, sex | 31y, female | 25y, female | 75y, female | 69y, female | 65y, male | 34y, male | 61y, female |
Onset of symptoms | Early adolescence | Early adolescence | Early adolescence | Early adolescence | Early adolescence | Not applicable | Not applicable |
Food cravings | Salt and white vinegar, lemons, sour figs | Salt and white vinegar, lemons, sour figs | White vinegar during youth, lemons, sour-tasting field plants | Salt and white vinegar during youth | Salt and white vinegar, lemons | ||
Fatigue | Since adolescence | Since adolescence | If supplements omitted | If supplements omitted | Since thirties | ||
Tetany | Episodes of carpopedal spasm | Episodes of carpopedal spasm | Carpopedal spasm as a child | Carpopedal spasm as a child | Occasional episodes of carpopedal spasm (mild) | ||
Palpitations | 1-2 times per week | Episodes previously | When hypokalaemic | Since myocardial infarction | Recent onset (pre-stent) | ||
Chest pain | Accompanies palpitations | L-sided muscular pain | During youth; myocardial infarction previously | Recent onset (pre-stent) | |||
Dizziness | Frequently during adolescence | Frequently since adolescence | Vertigo and tinnitus previously | ||||
Syncope | During youth only | One episode during his youth | One episode during her youth | ||||
Muscle weakness or tremor | Occasional L arm weakness | Episodes of R arm weakness | Resting tremor R arm | ||||
Cramps | Occasional | Occasional leg cramps | Occasional | ||||
Polydipsia | Drank ± 7 L/day, now 2 L | ±1 L daily, more with sport | Yes (on diuretic) | ||||
Vomiting | During pregnancy | During pregnancy | During pregnancy | ||||
Comorbidities | Osteoarthritis | IHD | Hypertension, depression | Hypertension, IHD | |||
Smoking | 15 pack years | 7 pack years | Quit 20 years ago | 50 pack years | 40 pack years | 30 pack years | 40 pack years |
Height, weight | 1.67 m, 96 kg | 1.69 m, 83 kg | 1.54 m, 72 kg | 1.52 m, 63 kg | 1.78 m, 70 kg | 1.86 m, 110 kg | 1.63 m, 94 kg |
BMI kg/m2 | 34 | 29 | 30 | 27 | 22 | 32 | 35 |
Blood pressure | 110/70 mmHg | 110/60 mmHg | 170/80 mmHg | 140/85 mmHg | 125/80 mmHg | 130/80 mmHg | 150/90 mmHg |
Medication for GS | KCl ampoules as required | KCl ampoules as required | Slow-K® 6/day | Slow-K® 8/day, “tissue salts” | Spironolactone,a losartan,a Slow-K® | ||
Other medication | Previously on spironolactone, Slow K® and KCl ampoules | Previously on etilefrine and KCl ampoules | Analgesics (NSAIDs, tramadol, paracetamol) | Propranolol | Carvedilol, simvastatin, aspirin | Citalopram, not currently taking antihypertensives | Carvedilol, aspirin, furosemide |