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A case of Gitelman syndrome with severe hyponatraemia and hypophosphataemia

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Singapore Med J 2013; 54:e18-e20; http://dx.doi.org/10.11622/smedj.2013020
A case of Gitelman syndrome with severe hyponatraemia and hypophosphataemia

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Ali A, Masood Q, Yaqub S, Kashif W
Correspondence: Dr Absar Ali, absar.ali@aku.edu

ABSTRACT
Gitelman syndrome (GS) is a renal tubular disorder of the thiazide-sensitive sodium chloride cotransporter, which is located in the distal tubule of the loop of Henle. We present a rare case of GS complicated by severe hyponatraemia and hypophosphataemia. A 17-year-old boy was admitted to our institution with fever and lethargy. The workup revealed typical features of GS, i.e. hypokalaemia, hypomagnesaemia and metabolic alkalosis. In this report, we discuss the differential diagnoses and rationale for accepting GS as the most likely diagnosis. This case was complicated by severe hyponatraemia (115 mmol/L) and hypophosphataemia (0.32 mmol/L). We concluded that the syndrome of inappropriate secretion of antidiuretic hormones could not be ruled out and that respiratory alkalosis was the most likely aetiology of hypophosphataemia. This case report also generates an interesting discussion on water and electrolyte metabolism.

Keywords: Gitelman syndrome, hyponatraemia, hypophosphataemia
Singapore Med J 2013; 54:e18-e20; http://dx.doi.org/10.11622/smedj.2013020

http://smj.org.sg/sites/default/files/5401/5401cr6.pdf

REFERENCES

1. Gladziwa U, Schwarz R, Gitter AH, et al. Chronic hypokalemia in adults: Gitelman's syndrome is frequent but classical Bartter's syndrome is rare. Nephrol Dial Transplant 1995; 10:1607-13.
 
2. Roser M, Eibl N, Eisenhaber B, et al. Gitelman Syndrome. Hypertension 2009; 53:893-7.
http://dx.doi.org/10.1161/HYPERTENSIONAHA.108.127993
 
3. Jang HR, Lee JW, Oh YK, et al. From bench to beside: diagnosis of Gitelman's syndrome - defect of sodium chloride cotransporter in renal tissue. Kidney Int 2006; 70:813-7.
http://dx.doi.org/10.1038/sj.ki.5001694
 
4. Rose BD. Meaning of urine electrolytes In: Rose BD, ed. Pathophysiology of Renal Disease. 5th ed. New York: McGraw-Hill, 2001.
 
5. Koch MJ. Disorders of Potassium Balance. In: Windus D, Henderson KE, De Fer TM. Nephrology Subspecialty Consult. 2nd ed Philadelphia: Lippincott Williams & Wilkins, 2008.
 
6. Knoers NV, Lertchenko EN. Gitelman syndrome. Orphanet J Rare Dis 2008; 3:22.
http://dx.doi.org/10.1186/1750-1172-3-22
 
7. Greenlee M, Wingo SC, Mc Donough AA, Youn JH, Kone BC. Narrative Review: evolving concepts in potassium homeostasis and hypokalemia. Ann Intern Med 2009; 150:619-25.
 
8. Schrier R. Renal and Electrolyte Disorders, 6th ed. Philadelphia: Lippincott Williams & Wilkins, 2003: 109-15.
 
9. Sherman RA, Eisinger RP. The use (and misuse) of urinary sodium and chloride measurements. JAMA 1982; 247:3121-4.
http://dx.doi.org/10.1001/jama.1982.03320470067039
 
10.Mann SJ. The silent epidemic of thiazide-induced hyponatremia. J Clin Hypertens (Greenwich) 2008; 10:477-84.
http://dx.doi.org/10.1111/j.1751-7176.2008.08126.x
 
11. Schepkens H, Stubbe J, Hoeben H, Vanholder R, Lameire N. Severe hyponatraemia and hypouricaemia in Gitelman's syndrome. Nephrol Dial Transplant 2001; 16:2250-2.
http://dx.doi.org/10.1093/ndt/16.11.2250
 
12.Halevy J, Bulvik S. Severe hypophosphatemia in hospitalized patient. Arch Intern Med 1988; 148:153-5.
http://dx.doi.org/10.1001/archinte.1988.00380010155016
 
13. Mostellar ME, Tuttle EP Jr. Effects of alkalosis on plasma concentration and urinary excretion of inorganic phosphorus in man. J Clin Invest 1964; 43:138-49.
http://dx.doi.org/10.1172/JCI104888
 
14.Akhtar N, Hafeez F. A rare case of Gitelman's syndrome with hypophosphatemia. J Coll Physicians Surg Pak 2009; 19:257-9.
 
15. Katopodis K, Elisaf M, Siamopoulos KC. Hypophosphataemia in a patient with Gitelman's Syndrome. Nephrol Dial Transplant 1996; 11:2090-2.
http://dx.doi.org/10.1093/oxfordjournals.ndt.a027107
 
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