ALPORT SYNDROME

Course overview

ALPORT SYNDROME IS A GENETIC CONDITION CHARACTERIZED BY KIDNEY DISEASE, LOSS OF HEARING, AND EYE ABNORMALITIES. IT OCCURS DUE TO AN ABNORMALITY OF A GENE THAT CODES FOR TYPE 4 COLLAGEN AND USUALLY PRESENTS IN PATIENTS WITH HEMATURIA, EDEMA, AND HYPERTENSION. IN 80% OF CASES, ALPORT SYNDROME IS INHERITED IN AN X-LINKED PATTERN AND CAUSED BY COL4A5 GENE MUTATIONS, ALTHOUGH OTHER INHERITANCE PATTERNS EXIST. IT CAN BE INHERITED AS AN AUTOSOMAL RECESSIVE OR DOMINANT PATTERN BY MUTATIONS IN COL4A3 OR COL4A4 GENE. THIS ACTIVITY ILLUSTRATES THE EVALUATION AND MANAGEMENT OF ALPORT SYNDROME AND REVIEWS THE ROLE OF THE INTERPROFESSIONAL TEAM IN IMPROVING CARE FOR PATIENTS SUFFERING FROM THIS CONDITION.