THE VALUE OF FAMILY SCREENING FOR PATIENTS WITH CYSTINE STONE DISEASEIN NORTHERN JORDAN

Objective To assess the prevalence of cystinuria and cystine stone dis ease among families of patients with cystine stones, and to determine their distribution by age, sex and associated morbidity. Subjects and methods The study comprised 180 relatives (87 males and 93 females, me an age 43 years) descended from two brothers over four generations who live in two areas in northern Jordan. Data were collected using a que stionnaire and home visits, by urinary cystine testing and radiology t o detect stone, and assessing hypertension and renal impairment. Resul ts Of the 180 subjects, 104 (58%) had a positive reaction for cystine in urine; 33 (32%) of these were younger than 15 years. Twenty members (11%) of the families had evidence of renal cystine stone disease. Hy pertension and renal impairment were detected in a significant proport ion of individuals with cystine stone disease. Conclusion Cystinuria i s a major risk factor for cystine stone formation, Family screening is valuable in detecting the cystinuric population and in assessing indi viduals with stones, Early recognition, treatment and counselling resu lt in better management and prevention. The establishment of a cystine study group in our region is essential.