Renal diseases in haemophilic patients: pathogenesis and clinical management

Abstract

Haemophilia A and B are genetic X-linked bleeding disorders, caused by mutations in genes encoding factors VIII and IX, respectively. Clinical manifestations of haemophilia are spontaneous haemorrhage or acute bleeding caused by minor trauma, resulting in severe functional consequences that can culminate in a debilitating arthropathy. Life expectancy and quality of life of patients with haemophilia have dramatically improved over the last years, mainly for new therapeutic options and the awareness to the risk of HCV and HIV infections. Different clinical problems arise from this important change in history of patients with haemophilia. In particular, ageing-related diseases, such as diabetes, hypertension and cancer, and chronic viral infections are emerging as new challenges in this patient population. Among the different types of chronic illnesses, renal diseases are of special interest as they involve some difficult management issues. In fact, decisions regarding adequate preventive strategies and viral infection treatment, the choice of the dialytic modality, placement of vascular access and prescription of dialytic treatments are particularly complicated, because only few data are available. In this review, we discuss the pathogenesis of renal damage in patients with haemophilia, especially in those with blood-transmitted viral infections, and the major issues about the management of renal diseases, including problems related to dialytic treatment and kidney transplantation, providing practical algorithms to guide the clinical decision-making process.

Renal function in children and adolescents with Duchenne muscular dystrophy

“…These exciting advances changed the clinical history of these patients and revealed novel disease-or therapy-related problems including renal dysfunction [30,31]. Muscular dystrophies are among the most common single gene disorders with DMD being the most frequent form affecting 1 of 3500 to 6000 newborn males.…”

Hemodialysis in a patient with severe hemophilia A and factor VIII inhibitor

“…Renal disease in hemophilia is rare and common causes are hypertension, diabetes, coronary artery disease, viral infections(HIV, hepatitis B & C),drug nephrotoxicity (antivirals, antibiotics, etc.) and kidney bleeding . Kulkarni et al reported the incidence of renal failure in hemophilia patients as 2.9%.…”

“…Peritoneal dialysis is a slightly better option in hemophiliacs according to available literature since there is no need for any additional replacement of factor VIII. However risk of intraperitoneal or retroperitoneal hemorrhage and malnutrition due to protein loss are still a concern.…”

“…Factor VIII would not pass through the dialysis filter since the molecular weight of factor VIII (light chain 80,000 Da and heavy chain 90,000–200,000 Da) is greater than that of albumin. Most commonly used protocol for prophylaxis is the infusion of 25–40 IU/kg of clotting factor concentrates three times a week for those with hemophilia A …”

“…and kidney bleeding. 4 Kulkarni et al 3 reported the incidence of renal failure in hemophilia patients as 2.9%. The only possible contributory factor for chronic kidney disease in our patient was chronic NSAIDS use for repeated hemarthrosis episodes.…”