Examinando por Autor "Medina Quizhpi, Karen Nicole"
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Ítem Acceso Abierto Enfermedad Renal Crónica Terminal secundaria mutación MYH9RD: reporte de caso(Universidad Católica de Cuenca., 2025) Medina Quizhpi, Karen Nicole; Bueno Castro , Andrés Santiago; 0104799242The condition characterized by the irreversible and progressive loss of kidney function is defined as End-Stage Renal Disease (ESRD). Such loss eventually requires that the patient initiate a renal replacement therapeutic plan such as peritoneal dialysis, hemodialysis, or a kidney transplant. There is a prevalence of at least 1 in 20,000 – 25,000 regarding diseases related to the MYH9RD mutation; the inheritance pattern is autosomal dominant. This case report concerns a 12-year-old male patient. The clinical features include generalized pallor, ecchymosis spread throughout the body, and fine tremors in the upper and lower extremities. He is diagnosed with end-stage renal failure resulting from the MYH9RD mutation. Therapy is initiated with the placement of a Tenckhoff catheter for peritoneal dialysis. In conclusion, the mutation in the MYH9RD gene tends to have significant physical repercussions in several areas, such as the kidney, in which the therapy negatively impacts the patient's living conditions, resulting in a significant emotional effect.
