A Case of Alport Syndrome in an 18-Year-Old Male: Clinical Presentation, Diagnosis, and Multidisciplinary Management

Abstract

Alport syndrome is a rare genetic disorder characterized by progressive kidney failure, sensorineural hearing loss, and eye abnormalities. We present the case of an 18-year-old male with shortness of breath and cough with sputum, who was found to have a family history of kidney disease and suffered progressive vision and hearing loss since the age of 10. The patient was diagnosed with Alport syndrome based on clinical criteria. He underwent dialysis and was referred to specialists for management of his vision and hearing loss. The diagnosis and management of Alport syndrome are discussed, highlighting the importance of early diagnosis and timely intervention.

Introduction

Alport syndrome is a hereditary nephropathy. It is caused by mutations in type IV collagen genes COL4A3, COL4A4, and COL4A5 that lead to defective basement membranes in kidneys, ears and eyes(1). It is most commonly inherited as an X-linked disorder. The disease exhibits significant phenotypic variability depending on the pattern of inheritance and  type of mutation(2). Here, we present a case of patient with Alport syndrome.

Case report

An 18-year-old male presented to emergency department with shortness of breath and cough with sputum. His father gave a history of abdominal discomfort, decreased oral intake and vomiting for past few months. Upon evaluation he had bibasilar lung crackles and peripheral edema. Labs showed decreased hemoglobin(7g/dl), creatinine of 10.8mg/dl and blood urea of 208mg/dl. His arterial blood gases revealed pH 7.35, HCO3 12.9 mmol/L and pCO2 23 mmHg. After initial stabilization, patient was admitted in our medical ward.On systemic review, it was found that patient has progressively decreased vision as well as decreased hearing since the age of 10 years. He also had family history of death in maternal uncle at a young age of 25 years due to complications of CKD.

Keywords: Alport syndrome,Genetic disorder,Kidney failure,Hearing loss,Eye abnormalities