WATCH BARTER'S AND GITELMAN'S SYNDROMES! (SEE WIKIPEDIA)
IN THIS DISEASE, HYPERTENSION DOES NOT OCCUR! THE ONLY DANGER IS OF COURSE DEAFNESS SO KEEP AWAY FROM CLCNK A and B (CIC-kB), ALL OTHER ARE TARGETABLE, OF COURSE DO NOT REPRODUCE THE FULL DISEASE, CHALLENGES AHEAD BUT DON'T RULE IT OUT JUST YET!
Bartter and Gitelman syndromes can be divided into different subtypes based on the genes involved:[5]
Name | Bartter type | Associated gene mutations | Defect | ||||
neonatal Bartter's syndrome | type 1 | SLC12A2 (NKCC2) | Na-K-2Cl symporter | ||||
neonatal Bartter's syndrome | type 2 | ROMK/KCNJ1 | thick ascending limb K+ channel | ||||
classic Bartter's syndrome | type 3 | CLCNKB | Cl- channel | ||||
Bartter's syndrome with sensorineural deafness | type 4 | BSND[6] | Cl- channel accessory subunit | ||||
Bartter's syndrome associated with autosomal dominant hypocalcemia | type 5 | CASR[7] | activating mutation of the calcium-sensing receptor | ||||
Gitelman's syndrome | - | SLC12A3 (NCCT) | Sodium-chloride symporter |
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