Résumé:
Hereditary kidney stones diseases with monogenic transmission (LUHM), which depend solely on a genetic factor, are much rarer than common calcium or uric stones which depend on both innate factors and environmental factors, in particular nutritional ones, and which play a major role in the origin of renal lithiasis. The objective of this work was to determine the prevalence of lithiasic diseases of monogenic origin and to study some epidemiological parameters of each disease, in patients referred to the "urolithiasis" laboratory of the University of Mostaganem. We analyzed the urinary stones in order to identify a lithiasis of hereditary origin. We carried out a retrospective study from the files of lithiasis patients (2005 and 2023). There were 38 cases with LUHM out of a total of 2235 stone patients, giving a prevalence of 1.61%. The average age was 24.2 ± 18 years, the most affected age group is under 20 years old. There is a male predominance. The anatomical localization was 58.1% in the kidneys, 9% in the ureters and 3% in the bladder, whereas 29% presented multiple localizations. We found the following LUHM: cystinuria, primary hyperoxaluria (PHO), xanthinuria and 2-8 Dihydroxyadeninuria (2,8-DHA). There is a prevalence of cystinuria of 65.8%, with a female predominance (M/F sex ratio of 0.8), the average age of cystinuric patients was 22 ± 14 years, the age group the most affected was that of 30 to 40 years. Family history was 45.4% and consanguinity 22.7%. These calculations were in 80% of cases pure. Recidivism was very high (65.2%). PHO has a female predominance (M/F sex ratio of 0.7), the average age was 31 ± 24 years, the age group most affected is that of 8 months to 8 years. Family history was 66.7% and consanguinity 22%. These stones were pure in 10% of cases. The recidivism was 44.4%. Xanthinuria has a prevalence of 5.3%, affecting both sexes equally (sex-ratio=1), consanguinity of 50%; and no family history or recurrence and 50% of stones were pure. 2-8 DHA has a prevalence of 2.6%. This study allowed us to show that the mutations responsible for LUHM exist in the population of western Algeria, hence the interest of diagnosing and treating them early. In the absence of diagnostic techniques for LUHM, morphological and infrared analysis of stones remains simple and effective methods for diagnosing these serious diseases.
