|
| Demographics | Total (%) | Associations | Total (%) |
|
| Age, mean | 31 | Pregnancy | 17 (14) |
| Range | 0.3–80 years | Calcium pyrophosphate deposition disease (CPPD) | 7 (5.7) |
| Males | 45 (36) | Sjogren syndrome | 5 (4) |
| Females | 77 (63) | Chondrocalcinosis | 4 (3.3) |
| Presentation | | Thyrotoxicosis hypokalemic periodic paralysis (THPP) | 2 (1.6) |
| Weakness | 52 (43) | Empty sella syndrome | 2 (1.6) |
| Cramps | 23 (19) | Type 2 diabetes | 2 (1.6) |
| Carpopedal spasms | 11 (9) | Primary aldosteronism | 2 (1.6) |
| Nausea, vomiting | 7 (6) | Type 1 diabetes | 1 (0.8) |
| Nocturia | 6 (5) | Pemphigus vegetans | 1 (0.8) |
| Paralysis | 5 (4) | Mitochondrial encephalopathy | 1 (0.8) |
| Numbness | 5 (4) | Varicose veins | 1 (0.8) |
| Joint pain, arthritis | 4 (3) each | Fanconi syndrome | 1 (0.8) |
| Muscle pain | 3 (2) | Autosomal dominant familial neurohypophyseal diabetes insipidus | 1 (0.8) |
| Polydipsia | 3 (2) | Syndrome of inappropriate ADH secretion | 1 (0.8) |
| Sicca symptoms | 3 (2) | Familial Mediterranean fever | 1 (0.8) |
| Hypokalemic paralysis | 2 (1.6) | Parathyroid adenoma | 1 (0.8) |
| Syncope | 2 (1.6) | Pancreatic cancer | 1 (0.8) |
| Salt craving | 2 (1.6) | Hashimoto thyroiditis | 1 (0.8) |
| Thirst, palpitations, frequent micturition, somnolence | 1 (0.8) each | Scleroderma | 1 (0.8) |
| Nausea, vomiting | 7 (6) | Crowded lens syndrome | 1 (0.8) |
| Paralysis | 5 (4) | Transient hypophosphatemia of infancy | 1 (0.8) |
| Visual abnormalities | 4 (3) | Pseudotumor cerebri | 1 (0.8) |
| Failure to thrive | 4 (3) | Gout | 1 (0.8) |
| Loss of appetite | 4 (3) | Graves disease | 1 (0.8) |
| Respiratory distress | 3 (2) | Serum Electrolytes | Total (%) |
| Arthralgias | 2 (1.6) | Sodium | |
| Headache | 2 (1.6) | Normal range (135–145 mEq/L) | 46 (38) |
| Diarrhea | 2 (1.6) | Low | 15 (12) |
| Raynaud’s phenomenon | 2 (1.6) | Potassium | |
| Incontinence | 1 (0.8) | Normal range (3.5–5 mEq/L) | 14 (11) |
| Insomnia | 1 (0.8) | Lower limit (2.5–3 mEq/L) | 57 (47) |
| Tinnitus | 1 (0.8) | Low (<2.5 mEq/L) | 41 (34%) |
| Perspiration | 1 (0.8) | Calcium | |
| Constipation | 1 (0.8) | Normal range (2.2–2.7 mmol/L) | 42 (34) |
| Complications | | Low | 13 (11) |
| Metabolic alkalosis | 7 (5.7) | High | 2 (1.6) |
| Hypokalemic paralysis | 6 (4.9) | Magnesium | |
| Hypokalemia | 5 (4) | Normal range (0.70–1.0 mmol/L) | 19 (16) |
| Prolonged QT intervals | 5 (4) | Low | 69 (57) |
| Pseudogout | 4 (3.3) | High | 6 (5) |
| Rhabdomyolysis | 4 (3.3) | Urine analysis | |
| ST depression | 2 (1.6) | Sodium | |
| T wave changes on EKG | 2 (1.6) | mmol/24h | |
| Gestational diabetes mellitus | 2 (1.6) | Normal (40–220 mmol/24 h) | 17 (14) |
| Focal segmental glomerulosclerosis | 2 (1.6) | High | 14 (11) |
| Prominent U waves | 2 (1.6) | Spot (mmol/L) | |
| Tubulointerstitial nephritis | 2 (1.6) | Normal (<20 mmol/L) | 1 (0.8) |
| Brain calcification | 1 (0.8) | High | 3 (2.5) |
| Diabetic ketoacidosis | 1 (0.8) | Potassium | |
| Left ventricular dysfunction | 1 (0.8) | mmol/24h | |
| Prolonged PR interval | 1 (0.8) | Normal (25–125 mmol/24 h) | 30 (25) |
| Ventricular fibrillation | 1 (0.8) | High | 8 (6.5) |
| MPGN | 1 (0.8) | Low | 2 (1.6) |
| Focal seizures | 1 (0.8) | Spot (mmol/L) | |
| Iron deficiency anemia | 1 (0.8) | Normal (20–40 mmol/L) | 3 (2.5) |
| Pericardial effusion | 1 (0.8) | High | 3 (2.5) |
| Neuropsychological symptoms | 1 (0.8) | Calcium | |
| Sclerochoroidal calcifications | 1 (0.8) | mmol/24h | |
| Renal tubular acidosis | 1 (0.8) | Normal (15–20 mmol/24 h) | 2 (1.6) |
| | | High | 3 (2.5) |
| Diagnosis | | Low | 58 (48) |
| Based on electrolyte abnormality | 68 (56) | Spot (mmol/L) | |
| Genetic mutations | | Normal (20–40 mmol/L) | |
| SLC12A3 gene mutations | 46 (38) | High | |
| NCCT gene | 3 (2.5) | Magnesium | |
| TSC gene | 3 (2.5) | mmol/24h | |
| Screening | 2 (1.6) | Normal (3–5 mmol/24 h) | 5 (4) |
| CLCNKB gene | 1 (0.8) | High | 13 (11) |
| | | Low | 7 (6) |
| Management | | Spot (mmol/L) | |
| Electrolyte replacement (Mg, K supplements) | 92 (75) | Normal (8–152 mmol/L) | 1 (0.8) |
| Spironolactone | 32 (26) | High | N/A |
| Pain killers | 13 (11) | Low | 1 (0.8) |
| Angiotensin receptor blocker | 7 (5.7) | Chloride (140–250 mmol/24 h) | |
| Amiloride | 7 (5.7) | mmol/24 h | |
| Steroids | 5 (4) | Normal(140–250 mmol/24 h) | 2 (1.6) |
| Eplerenone | 3 (2.5) | High | 3 (2.5) |
| Colchicine (for gout) | 2 (1.6) | Low | 3 (2.5) |
| Desmopressin | 2 (1.6) | mmol/L | |
| Growth hormone (for empty sella syndrome) | 2 (1.6) | Normal (98–107 mmol/L) | |
| Febuxostat (for gout) | 1 (0.8) | Low | 6 (4.9) |
| Cyclophosphamide | 1 (0.8) | High | 4 (3.3) |
| Triamterene | 1 (0.8) | 24 hr urinary protein | |
| Phenytoin | 1 (0.8) | Normal (<80 mg/24 h) | 1 (0.8) |
| Amiodarone (for ventricular fibrillation) | 1 (0.8) | Low | |
| Metoclopramide | 1 (0.8) | High | 7 (6) |
| Antithyroid drugs | 1 (0.8) | Calcium creatinine ratio | |
| Outcome | | Normal (<0.14) | |
| Recovery | 86 (70) | High | |
| | | Low | |
|
