The value of family screening for patients with cystine stone disease in northern Jordan

Abstract

Objective: To assess the prevalence of cystinuria and cystine stone disease 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, mean age 43 years) descended from two brothers over four generations who live in two areas in northern Jordan. Data were collected using a questionnaire and home visits, by urinary cystine testing and radiology to detect stone, and assessing hypertension and renal impairment.

Results: 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. Hypertension and renal impairment were detected in a significant proportion of individuals with cystine stone disease.

Conclusion: Cystinuria is a major risk factor for cystine stone formation. Family screening is valuable in detecting the cystinuric population and in assessing individuals with stones. Early recognition, treatment and counselling result in better management and prevention. The establishment of a cystine study group in our region is essential.