Abstrict

Introduction Fabry's disease (FD) is a rare disorders due to the very low residual function of alphagalactosidase enzyme causing chronic kidney disease (CKD), with the incidence of 1/40,000 males. Heterozygous females may be asymptomatic. We hereby report a patient having CKD and other clinical findings like, dermatological , neurological and cardiological manifestations and pedigree analysis were
strongly suggest the diagnosis of Fabry Disease.
Case Presentation: A 40 year old man with high renal profile The patient is normotensive, non-diabetic, in 2013 had history of left ophthalmoloplagia which resulted from acute ischemia in midbrain, In 2014 had bilateral sensory neural hearing loss. In 2019 was noticed that he had a skin rash in a “bathing-trunk” distribution, they are small angiomas, by physical examination patient looks pale, he has mild pedal edema , CNS examination showed 7th , 8th and 9th cranial nerve palsy, his investigations showed raised s. creatinine 3.2 mg/dl, Urine protein++, eGFR 22.4/min/1.73m2. Ultrasound abdomen showed small kidneys and echocardiography showed LVH. A pedigree analysis showed recipient was third in birth order and has two brothers a known case of CKD on regular hemodialysis, The CKD of the brothers was a result of Fabry Disease, was evaluated for a-galactosidase activity which was found markedly decreased (12.10; normal
enzyme activity level >60). According to clinical manifestations and strong family history of FD,
Conclusion & Recommendations: This case report highlights the importance of careful evaluation of cases of CKD due to unusual causes, particularly when there's positive family history, in order to avoid misdiagnosis