Journal List > J Rheum Dis > v.23(4) > 1064275

Song, Lim, Park, Song, Lee, Choi, and Jun: Gitelman's Syndrome Associated with Chondrocalcinosis

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

1. Gitelman HJ, Graham JB, Welt LG. A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Physicians. 1966; 79:221–35.
2. Bettinelli A, Bianchetti MG, Girardin E, Caringella A, Cecconi M, Appiani AC, et al. Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes. J Pediatr. 1992; 120:38–43.
crossref
3. Knoers NV, Levtchenko EN. Gitelman syndrome. Orphanet J Rare Dis. 2008; 3:22.
crossref
4. Sanmartí R, Pañella D, Brancós MA, Canela J, Collado A, Brugués J. Prevalence of articular chondrocalcinosis in elderly subjects in a rural area of Catalonia. Ann Rheum Dis. 1993; 52:418–22.
5. Koçkara AŞ, Candan F, Hüzmeli C, Kayataş M, Alaygut D. Gitelman's syndrome associated with chondrocalcinosis: a case report. Ren Fail. 2013; 35:1285–8.
crossref
6. Hisakawa N, Yasuoka N, Itoh H, Takao T, Jinnouchi C, Nishiya K, et al. A case of Gitelman's syndrome with chondrocalcinosis. Endocr J. 1998; 45:261–7.
crossref
7. Vargas-Poussou R, Dahan K, Kahila D, Venisse A, Riveira-Munoz E, Debaix H, et al. Spectrum of mutations in Gitelman syndrome. J Am Soc Nephrol. 2011; 22:693–703.
crossref
8. Nakamura A, Shimizu C, Nagai S, Yoshida M, Aoki K, Kondo T, et al. Problems in diagnosing atypical Gitelman's syndrome presenting with normomagnesaemia. Clin Endocrinol (Oxf). 2010; 72:272–6.
crossref
9. Colussi G, Bettinelli A, Tedeschi S, De Ferrari ME, Syrén ML, Borsa N, et al. A thiazide test for the diagnosis of renal tubular hypokalemic disorders. Clin J Am Soc Nephrol. 2007; 2:454–60.
crossref
10. Fukuyama S, Okudaira S, Yamazato S, Yamazato M, Ohta T. Analysis of renal tubular electrolyte transporter genes in seven patients with hypokalemic metabolic alkalosis. Kidney Int. 2003; 64:808–16.
crossref
11. Yoo TH, Lee SH, Yoon K, Baek H, Chung JH, Lee T, et al. Identification of novel mutations in Na-Cl cotransporter gene in a Korean patient with atypical Gitelman's syndrome. Am J Kidney Dis. 2003; 42:E11–6.
crossref
12. Lo YF, Nozu K, Iijima K, Morishita T, Huang CC, Yang SS, et al. Recurrent deep intronic mutations in the SLC12A3 gene responsible for Gitelman's syndrome. Clin J Am Soc Nephrol. 2011; 6:630–9.
13. Favero M, Calò LA, Schiavon F, Punzi L. Miscellaneous non-inflammatory musculoskeletal conditions. Bartter's and Gitelman's diseases. Best Pract Res Clin Rheumatol. 2011; 25:637–48.
14. Colussi G, Rombolà G, De Ferrari ME, Macaluso M, Minetti L. Correction of hypokalemia with antialdosterone therapy in Gitelman's syndrome. Am J Nephrol. 1994; 14:127–35.
15. Bettinelli A, Metta MG, Perini A, Basilico E, Santeramo C. Long-term follow-up of a patient with Gitelman's syndrome. Pediatr Nephrol. 1993; 7:67–8.
crossref

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.
jrd-23-266f1.tif
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.
jrd-23-266f2.tif
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

ALP: alkaline phosphatase, ALT: alanine transaminase, AST: aspartate transferase, BUN: blood urea nitrogen, eGFR:estimated glomerular filtration rate, PTH: parathyroid hormone, TSH: thyroid-stimulating hormone.

* Spot urine reference range.

Table 2.
Thiazide and furosemide loading test*
Parameter Basal Thiazide loading Furosemide loading
FENa      
 Base 1.85 1.45 3.08
 Max 1.03 0.18 10.63
 Δ FENa −0.82 −1.27 7.55
FEK      
 Base 46.62 29.63 26.61
 Max 31.02 16.76 73.43
 Δ FEK −15.6 −12.87 46.82
FECl      
 Base 1.03 0.7 1.75
 Max 0.57 0.13 14.57
 Δ FECl −0.46 −0.57 12.82
CCl 0.34 0.41 4.14

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).

* Fractional electrolyte clearance before (base) and its maximal increase levels (max).

TOOLS
Similar articles