ALPORTʹS SYNDROME

Alportʹs syndrome (hereditary nephropathy) is a progressive nephropathy characterized by focal and segmental thickness of the basement membrane with cleft formation in the lamina densa of the basement membrane, sensorineural deafness, lenticular opacities, corneal and retinal abnormalities. The course of the disease is rapid in males and father to son transmission does not occur. The commonest mode of transmission is X linked though autosomal mode of inheritance is well described. Patients with Alportʹs syndrome donʹt get Goodpasture syndrome unless they are transplanted because they lack Goodpasture antigen .We studied 10 cases of Alportʹs syndrome at the department of medicine Hayat Abad Medical Complex Peshawar 1997-2001. Out of 10 cases 9 were males (90%) and only 1 (10%) case was a female. Most of the cases were young, 5-15 years 8 cases (80%). 9 cases (90%) had non-nephrotic range proteinuria and 5 cases (50%) had normal creatinine at the time of diagnosis. Corneal, retinal abnormalities and sensorineural deafness was fairly common (100%). All cases had microscopic haematuria and only 1 (10%) case had macroscopic haematuria. We conclude that Alportʹs syndrome should be considered in the differential diagnosis of haematuria when there is deafness or a family history of renal disease.