Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0023380 (lethargy)
 5,697 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
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PMID:A case of Gitelman syndrome with severe hyponatraemia and hypophosphataemia. 2333 26

Dehydration is a common presentation to any emergency department with symptoms ranging from lethargy, confusion, oliguria as well as those specific to the underlying cause. In this case we describe a young patient who following a short history of vomiting and abdominal pain developed carpopedal spasm and distal parasthesia on a background of Gitelman syndrome. Biochemical blood analysis showed a marked hypokalaemia, hypomagnesaemia and mild metabolic alkalosis in addition to a prolonged QTc interval of 592 ms seen on ECG. Following fluid replacement and electrolyte correction his clinical symptoms resolved along with QTc normalisation. This case demonstrates a patient with a rare and interesting renal disorder who presented with typical biochemical and ECG abnormalities in addition to tetany in the presence of normal plasma calcium.
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PMID:Localised normocalcaemic tetany secondary to dehydration in an individual with Gitelman syndrome. 2363 12