MANEJO Y SEGUIMIENTO CLÍNICO DE PACIENTE CON SINDROME DE ALPORT FASE IV

Abstract

Introduction Alport syndrome (AS) is a hereditary disease of the basement membranes caused by mutations in type IV collagen. This disease is characterized by the presence of progressive hereditary nephropathy associated with sensory deafness, as well as ocular lesions. AS has an incidence of 1 in every 50,000 live births, constituting 1 to 2% of the cause of chronic kidney disease (CKD) in Europe and 3% of CKD in the American pediatric population; it is considered to be the cause of terminal uremia in 0.6 to 4.6% of terminal patients in the United States and Europe. At the moment there is no casuistry in this regard in Ecuador. At present there is no specific treatment for Alport Syndrome, however the drugs Angiotensin Converting Enzyme Inhibitors (ACEI) and angiotensin II receptor antagonists (ARBs) have demonstrated efficacy and safety over blocking the system. renin angiotensin aldosterone, thus reducing the presence of proteinuria and slowing the deterioration of CKD. Case description A 28-year-old male patient with a personal history of HT and 6-member SA relatives: 2 nephews, 1 brother and 3 carrier nieces. The physical examination revealed the presence of moderate bilateral hearing loss. He presents kidney disease from the age of 10 without adequate control. Alport Syndrome was diagnosed in 2012 by means of a renal biopsy, evidence of hematuria and by family history. He is currently receiving Hemodialysis treatment in a daily short session modality, which consists of 5 weekly sessions from Monday to Friday of 2 hours each; he is kept under hypotensive treatment of 10mg QD of Amlodipine (Calcium Channel Blocker), and 10mg BID of Carvedilol (Beta Blocker), together with 12.5mg BID of Losartan (Angiotensin II Receptor Antagonist), The patient was followed up throughout the year 2020 until January 2021, calculating the Glomerular Filtration Rate month by month to be able to show whether there is a significant progressive deterioration of his residual kidney function. Conclusion It is mentioned that the residual renal function has not been affected thanks to the control of the Arterial Hypertension of the patient where an ARA II drug (Losartan) is added, which slows the progressive renal deterioration that is typical of Alport Syndrome. The incorporation of the patient to the modality of daily short session of hemodialysis has helped to have a compensation of the renal function, obtaining a continuous clearance, resembling the function of a healthy kidney as closely as possible. In order for a hemodialysis treatment to have better results compensating for residual renal function, consecutive and longer sessions should be established, however this is a complicated issue depending on the availability of time and tolerance of the patient.