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Abstract
Gitelman's syndrome (GS), a hereditary disease characterized by hypokalemia, hypomagnesemia, and hypocalciuria, is a salt-losing renal tubulopathy. Herein, we describe a case of a 28-year-old woman diagnosed with atypical GS accompanying chondrocalcinosis. One year ago, she presented with vomiting, hypokalemic metabolic alkalosis, and hypocalciuria, and was tested by diuretic challenge test. As a result, she was diagnosed with atypical GS with normomagnesemia and treated with spi-ronolactone and potassium supplementation. Meanwhile, acute arthritis of the right 1st metatarsophalangeal joint occurred. On the radiographies of the knees, chondrocalcinosis was observed. To the best of our knowledge, this is the first report in Korea of GS with chondrocalcinosis. Antialdosterone therapy or magnesium supplementation is effective in preventing the progression of chondrocalcinosis; thus, early diagnosis and treatment of GS are important.
REFERENCES
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Figure 1.
A 12-lead electrocardiogram (ECG) from a 27-year-old woman with hypokalemia. ECG demonstrates flatten T-waves, depressed ST-segment changes, and prominent U waves.
Figure 2.
Chondrocalcinosis in radiographies of the patient's knees (A). Arrows show amorphous radiopaque densities along both medial and lateral menisci. Ultrasonographic examination of right 1st metatarsophalangeal joint (B) showed no evidence of crystal deposition like double contour sign.
Table 1.
Biochemical data of patient
| Parameter | At first admission (April 2014) | At latest admission (April 2015) | Reference range |
|---|---|---|---|
| Serum chemistry | |||
| Sodium (mEq/L) | 136 | 138 | 135∼145 |
| Potassium (mEq/L) | 2.1 | 2.4 | 3.5∼5.5 |
| Chloride (mEq/L) | 82 | 87 | 96∼110 |
| Magnesium (mg/dL) | 1.9 | 2.4 | 1.5∼2.5 |
| Calcium (mg/dL) | 9.6 | 9.4 | 8.4∼10.4 |
| Phosphate (mg/dL) | 3.0 | 4.5 | 2.5∼4.5 |
| Uric acid (mg/dL) | 9.6 | 9.3 | 2.2∼8 |
| Osmolality (mOsm/kg) | 285 | 290 | 280∼300 |
| BUN (mg/dL) | 37.6 | 24.2 | 7∼20 |
| Creatinine (mg/dL) | 1.22 | 1.08 | 0.6∼1.4 |
| eGFR | 56 | 70 | |
| AST (U/L) | 23 | 25 | 5∼40 |
| ALT (U/L) | 22 | 20 | 5∼45 |
| ALP (U/L) | 81 | 84 | 30∼110 |
| Ferritin (ng/mL) | 101.3 | - | 13∼150 |
| Urine chemistry | (24 h urine) | (Spot urine) | |
| Sodium (mEq/d) | 146.0 | 179 | 40∼220 (25∼250)* |
| Potassium (mEq/d) | 37.6 | 84.7 | 25∼120 (12∼129)* |
| Chloride (mEq/d) | 45.1 | 59 | 110∼250 (0∼300)* |
| Magnesium (mg/d) | 77.1 | - | 7.3∼12.2 |
| Calcium (mg/d) | 13.9 | - | 100∼300 |
| Osmolality (mOsm/kg) | 315 | 622 | 400∼800 |
| Urine pH | 8.5 | 8.5 | 5.0∼8.0 |
| Arterial blood gas analysis | |||
| pH | 7.56 | - | 7.35∼7.45 |
| PaCO2 (mmHg) | 56.6 | - | 32∼45 |
| PaO2 (mmHg) | 85.6 | - | 83∼108 |
| − (mmol/L) HCO3 | 49.2 | - | 21∼28 |
| Base excess (mmol/L) | 23.9 | - | −2∼2 |
| Endocrine test | |||
| Plasma renin activity (ng/mL/h) | 34.78 | - | 0.15∼2.33 |
| Serum aldosterone level (ng/dL) | 11.0 | - | 1.3∼14.5 |
| TSH (μ IU/mL) | 1.33 | 0.27∼4.2 | |
| Free T4 (ng/dL) | 1.57 | 0.93∼1.7 | |
| PTH-intact (pg/mL) | 86.6 | 15∼65 |
Table 2.
Thiazide and furosemide loading test*
Sodium and chloride clearances were markedly increased after furosemide loading, but not affected by thiazide loading. FEa: Solute fractional clearance (%)=[(Ua×Pcr)/(Pa×Ucr)]×100.Δ FE: The difference between maximal excretion at any time after diuretics (thiazide or furosemide) administration and FE (base): ΔFE=FE (max)－FE (base).
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