A case of Gitelman syndrome with severe hyponatraemia and hypophosphataemia.

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.

• Authors: Absar Ali, Qamar Masood, Sonia Yaqub, Waqar Kashif
• Journal: Singapore medical journal (Singapore Med J) Vol. 54 Issue 1 Pg. e18-20 (Jan 2013) ISSN: 0037-5675 [Print] India
• PMID: 23338926 (Publication Type: Case Reports, Journal Article)

Chemical References

• Electrolytes
• Vasopressins

Topics

• Adolescent
• Alkalosis, Respiratory (diagnosis)
• Electrolytes
• Fever
• Gitelman Syndrome (complications, diagnosis)
• Humans
• Hyponatremia (complications, diagnosis)
• Hypophosphatemia (complications, diagnosis)
• Lethargy
• Male
• Vasopressins (metabolism)