CKDt
CKDt, also known as Chronic Kidney Disease of the 5th type, is a rare genetic disorder characterized by the progressive loss of kidney function over time. It is caused by mutations in the KCNJ1 gene, which encodes for the Kir6.2 protein, a component of the renal outer medullary potassium channel. This channel plays a crucial role in maintaining the body's potassium balance and blood pressure.
CKDt typically presents in infancy or early childhood, with symptoms including polyuria, polydipsia, and hypertension. As
The diagnosis of CKDt is typically made through genetic testing, which identifies mutations in the KCNJ1 gene.
CKDt is a rare condition, with an estimated prevalence of less than 1 in 100,000 individuals. It
Research into CKDt is ongoing, with a focus on understanding the underlying molecular mechanisms of the disease