This transporter is located in the thick ascending limb of the loop of henle in bartter syndrome and distal convoluted tubule in gitelman syndrome. Gitelman syndrome gs omim 263800, also referred to as familial hypokalemiahypomagnesemia, is an autosomal recessive saltlosing renal tubulopathy that is characterized by hypomagnesemia, hypocalciuria and secondary aldosteronism, which is responsible for hypokalemia and metabolic alkalosis. Icd9cm volume 3 is a system of procedural codes used by health insurers to classify medical procedures for billing purposes. Gitelman syndrome is an autosomal recessive, saltlosing tubulopathy characterized by renal potassium wasting, hypokalemia, metabolic alkalosis, hypocalciuria, hypomagnesemia, and hyporeninemic hyperaldosteronism. Assigning icd9 cm codes to a patients is important because they are recorded.
Treatment for gitelman syndrome in hyderabad, find doctors near you. The increased granularity will provide better analysis of disease patterns and. The prevalence is estimated at 25 per million and accordingly, the. Icd icd9cm international classification of diseases, ninth.
Gitelman syndrome nord national organization for rare. Gitelman syndrome gs, also referred to as familial hypokalemiahypomagnesemia, is a saltlosing tubulopathy characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. Thinking back when i was a child it all makes sense now. However, many cases of these disorders may go undiagnosed or misdiagnosed, making it difficult to determine the true frequency of gitelman syndrome in the general population. Umls metathesaurus icd9cm international classification of. The disorder is caused by genetic mutations resulting in improper function of the thiazidesensitive sodiumchloride symporter also known as ncc, ncct, or tsc located in the distal convoluted. Bartter and gitelman syndromes are caused by the alteration of a carrier involved in sodium chloride nacl reabsorption. The current icd9cm diagnosis codes do not provide sufficient clinical specificity to describe the severity or complexity of the various disease conditions. Was finally dx 1986 by rochester mn mayo clinic with barters. Gitelman syndrome gs is an autosomal recessive kidney tubule disorder characterized by low blood levels of potassium and magnesium, decreased excretion of calcium in the urine, and elevated blood ph.
Why i was ill now and then and no one could figure it out. Bartter syndrome results from defective transepithelial transport of nacl in the thick ascending loop or the distal. Gitelman syndrome treatment, gitelman syndrome treatment. The international classification of diseases, 9th revision, clinical modification icd9 cm. Family of disorders characterized by hypokalemic, hypochloremic, hypomagnesemic variants with hypocalciuria, metabolic alkalosis, and normotensive hyperreninemic hyperaldosteronism linked to the gene encoding the thiazidesensitive naclcotransporter tsc.
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