D2I2.
genetic

Gitelman syndrome

Gitelman (GS) is an kidney tubule disorder characterized by low blood levels of and magnesium, decreased excretion of calcium in the urine, and elevated blood pH. It is the most frequent salt-losing tubulopathy. Gitelman syndrome is caused by disease-causing on both alleles of the SLC12A3 gene. The SLC12A3 gene encodes the thiazide-sensitive sodium-chloride cotransporter, which can be found in the convoluted tubule of the kidney.

Underlined words are explained — tap any of them.

Causes — why it happens

  • · in SLC12A3, CLCKNB, MT-TI, MT-TF
Plain-language summary adapted from Wikipedia. Not medical advice.