Biomaterial Database

Tophaceous gout in a young man with Gitelman syndrome: a case report with an overview. 2023

Leila Rouached, and Emna Hannech, and Riadh Jeribi, and Olfa Saidane, and Aicha Ben Tekaya, and Selma Bouden, and Rawdha Tekaya, and Linda Belhaj Kacem, and Ines Mahmoud, and Soumaya Rammeh, and Leila Abdelmoula

Rheumatology Department, Charles Nicolle Hospital, Boulevard du 9 Avril 1938, 1006, Tunis, Tunisia. Leila.rouached@gmail.com.

Gitelman syndrome represents the clinical manifestations of inactivation of the Slc12a3 genes encoding the thiazide-sensitive sodium chloride cotransporter and the Trpm6-Mg genes encoding the magnesium transporters in the distal convoluted tubule. In fact, the biochemical findings resemble those with thiazide diuretics such as hypokalemia, hypomagnesaemia, hypocalciuria, metabolic alkalosis, and low normal blood pressure. He is usually associated with calcium pyrophosphate deposition. Serum uricemia level is rarely affected in Gitelman syndrome. We aimed to report a rare association of chronic gout with Gitelman syndrome, hence the interest of our case. We describe a 29-year-old male patient with a history of Gitelman syndrome associated with articular gout including pelvic localization. We provided pictorial evidence of extensive and diffuse monosodium urate deposition in articular and periarticular structures to confirm the gout origin. A literature review illustrates 4 reported cases of Gitelman syndrome associated with gout. The gender distribution was equal with a mean age of 40 years.

UI	MeSH Term	Description	Entries
D007008	Hypokalemia	Abnormally low potassium concentration in the blood. It may result from potassium loss by renal secretion or by the gastrointestinal route, as by vomiting or diarrhea. It may be manifested clinically by neuromuscular disorders ranging from weakness to paralysis, by electrocardiographic abnormalities (depression of the T wave and elevation of the U wave), by renal disease, and by gastrointestinal disorders. (Dorland, 27th ed)	Hypopotassemia,Hypokalemias,Hypopotassemias
D008274	Magnesium	A metallic element that has the atomic symbol Mg, atomic number 12, and atomic weight 24.31. It is important for the activity of many enzymes, especially those involved in OXIDATIVE PHOSPHORYLATION.
D008297	Male		Males
D002114	Calcinosis	Pathologic deposition of calcium salts in tissues.	Calcification, Pathologic,Calcinosis, Tumoral,Microcalcification,Microcalcinosis,Pathologic Calcification,Calcinoses,Calcinoses, Tumoral,Microcalcifications,Microcalcinoses,Tumoral Calcinoses,Tumoral Calcinosis
D006073	Gout	Metabolic disorder characterized by recurrent acute arthritis, hyperuricemia and deposition of sodium urate in and around the joints, sometimes with formation of URIC ACID calculi.	Gouts
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults
D053579	Gitelman Syndrome	An inherited renal disorder characterized by defective NaCl reabsorption in the convoluted DISTAL KIDNEY TUBULE leading to HYPOKALEMIA. In contrast with BARTTER SYNDROME, Gitelman syndrome includes hypomagnesemia and normocalcemic hypocalciuria, and is caused by mutations in the thiazide-sensitive SODIUM-POTASSIUM-CHLORIDE SYMPORTERS.	Familial Hypokalemia-Hypomagnesemia,Gitelman's Syndrome,Hypokalemia-Hypomagnesemia, Primary Renotubular, with Hypocalciuria,Hypomagnesemia-Hypokalemia, Primary Renotubular, with Hypocalciuria,Potassium and Magnesium Depletion,Primary Renotubular, Hypokalemia-Hypomagnesemia with Hypocalciuria,Primary Renotubular, Hypomagnesemia-Hypokalemia with Hypocalciuria,Tubular Hypomagnesemia-Hypokalemia with Hypocalcuria,Familial Hypokalemia Hypomagnesemia,Hypokalemia-Hypomagnesemia, Familial,Syndrome, Gitelman,Syndrome, Gitelman's,Tubular Hypomagnesemia Hypokalemia with Hypocalcuria
D064486	Solute Carrier Family 12, Member 3	Na-Cl cotransporter in the convoluted segments of the DISTAL KIDNEY TUBULE. It mediates active reabsorption of sodium and chloride and is inhibited by THIAZIDE DIURETICS.	NCCT Protein,Na-Cl Cotransporter,Na-Cl Symporter,Na-Cl Thiazide-Sensitive Cotransporter,SLC12A3 Cotransporter,SLC12A3 Protein,Thiazide-Sensitive Sodium-Chloride Cotransporter,Cotransporter, Na-Cl,Cotransporter, Na-Cl Thiazide-Sensitive,Cotransporter, SLC12A3,Cotransporter, Thiazide-Sensitive Sodium-Chloride,Na Cl Cotransporter,Na Cl Symporter,Na Cl Thiazide Sensitive Cotransporter,Protein, NCCT,Protein, SLC12A3,Sodium-Chloride Cotransporter, Thiazide-Sensitive,Symporter, Na-Cl,Thiazide Sensitive Sodium Chloride Cotransporter,Thiazide-Sensitive Cotransporter, Na-Cl