This protocol applies to patients with autosomal dominant tubulointerstitial kidney disease caused by a renin (REN) gene mutation (ADTKD-REN) who present with anemia. In ADTKD-REN, anemia is a recognised manifestation that can arise independently of the degree of kidney function decline.
Patients with REN mutations develop anemia during childhood unrelated to the level of estimated glomerular filtration rate. This early, non-CKD-stage anemia is a distinctive feature of ADTKD-REN and requires targeted management.
The approach to anemia in ADTKD-REN involves erythropoiesis-stimulating agents. The full protocol — including selection criteria, sequencing, and monitoring — is available via the link below.
Clinical goal: resolution of anemia.
DOI: 10.1038/ki.2015.28
Patients with REN mutations develop anemia during childhood unrelated to the level of estimated glomerular filtration rate.
In ADTKD-REN patients, erythropoiesis-stimulating agents and fludrocortisone can be used for the treatment of anemia and symptomatic hypotension, respectively.
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