Calcium urolithiasis course in young stone formers is influenced by the strength of family history: results from a retrospective study

Abstract

The role of the strength of family history of stones (FHS), i.e., degree of relatives with the disease, on the course of calcium urolithiasis (CU) is not fully understood, particularly in young patients where genetic background has the greatest influence on disease expression. Thus, with a retrospective cross-sectional design, we examined baseline clinical parameters and urinary chemistries of 369 subjects (196 M) with CU and 96 controls (41 M) aged between 15 and 25 at the time of the first visit at our stone clinic. Subjects with metabolic syndrome traits, known causes of CU or CU onset before the age of 15 were excluded. Clinical and metabolic parameters were compared among stone formers (SF) and controls, stratified by gender, the presence and type of FHS determined through the kinship coefficient of relatives with stones. No significant differences in clinical course were found between SF with and without FHS, except for the presence of bilateral stones (OR 2.01, 95% CI 1.20-3.39, p < 0.01). A significant age-, sex- and disease duration-adjusted trend for a higher number of colics (p for trend = 0.001), number of stones (p for trend = 0.002), stone rate (p for trend = 0.003) and the presence of retained stones (OR 1.60, 95% CI 1.14-2.21, p = 0.006) was detected with increasing FHS strength. Urinary chemistries were unaffected by FHS in both SF and controls, except for a higher calcium excretion in females with FHS (p < 0.05). The type of FHS, thus, significantly influences the clinical course of CU in young SF, mainly irrespective of urinary factors.

Stone formation in patients less than 20 years of age is associated with higher rates of stone recurrence: Results from the Registry for Stones of the Kidney and Ureter (ReSKU)

“…Guerra et al compared family history of stones with stone recurrence and found no association, which is also reproduced in our study [17]. We included infectious symptoms on presentation in our clinic as a surrogate to evaluate for presence of infectious stones, which historically is more prevalent in pediatrics and in female patients [2].…”

Nephrolithiasis secondary to inherited defects in the thick ascending loop of henle and connecting tubules

“…Familial aggregation of kidney stone disease was already recognized in 1874 [1]. A positive family history is present in 20-50 % of renal stone formers (SF) [2][3][4] and both twin [5] and genealogy [6] studies revealed a strong heritability of nephrolithiasis. The genetics of nephrolithiasis is heterogeneous and complex.…”

Urinary sulfated glycosaminoglycan insufficiency and chondroitin sulfate supplement in urolithiasis

“…Familial members of urolithiasis have a greater risk of stone development than normal population [1]. Moreover, urolithiasis patients with positive family history of stone tended to have poor clinical outcomes [2, 3]. Our previous study demonstrated abnormal urinary excretion of phosphate, citrate and protein in urolithiasis patients and their children that had significant correlation with urinary supersaturation [4].…”