ABSTRACT
Renal calculus is a common disease with complex etiology and high recurrence rate. Recent studies have revealed that gene mutations may lead to metabolic defects which are associated with the formation of renal calculus, and single gene mutation is involved in relative high proportion of renal calculus. Gene mutations cause changes in enzyme function, metabolic pathway, ion transport, and receptor sensitivity, causing defects in oxalic acid metabolism, cystine metabolism, calcium ion metabolism, or purine metabolism, which may lead to the formation of renal calculus. The hereditary conditions associated with renal calculus include primary hyperoxaluria, cystinuria, Dent disease, familial hypomagnesemia with hypercalciuria and nephrocalcinosis, Bartter syndrome, primary distal renal tubular acidosis, infant hypercalcemia, hereditary hypophosphatemic rickets with hypercalciuria, adenine phosphoribosyltransferase deficiency, hypoxanthine-guanine phosphoribosyltransferase deficiency, and hereditary xanthinuria. This article reviews the research progress on renal calculus associated with inborn error of metabolism, to provide reference for early screening, diagnosis, treatment, prevention and recurrence of renal calculus.
Subject(s)
Infant , Humans , Hypercalciuria/genetics , Kidney Calculi/genetics , Urolithiasis/genetics , Nephrocalcinosis/genetics , Metabolism, Inborn Errors/geneticsABSTRACT
ABSTRACT Purpose It has been reported that calcitonin receptor (CALCR) gene polymorphisms might be associated with calcium stone urolithiasis. Owing to mixed and inconclusive results, we conducted a meta-analysis to summarize and clarify this association. Materials and Methods A systematic search of studies on the association between CALCR gene polymorphisms and calcium stone urolithiasis susceptibility was conducted in databases. Results Odds ratios and 95% confidence intervals were used to pool the effect size. Five articles were included in our meta-analysis. Conclusions CALCR rs1801197 might be associated with increased risk of calcium stone urolithiasis. There is insufficient data to fully confirm the association between CALCR rs1042138 and calcium stone urolithiasis susceptibility. Well-designed studies with larger sample size and more subgroups are required to validate the risk identified in the current meta-analysis.
Subject(s)
Humans , Male , Female , Receptors, Calcitonin/genetics , Polymorphism, Single Nucleotide , Urolithiasis/genetics , Calcium/metabolism , Risk Factors , Risk Assessment , Genetic Association StudiesABSTRACT
La litiasis del tracto urinario es una condición que, por lo general, se asocia a alteraciones metabólicas como hipercalciuria, hipocitraturia, hiperfosfaturia, hiperuricosuria, hiperoxaluria, cistinuria y defecto de acidificación urinaria, pero su etiología es multifactorial, e intervienen en su formación la predisposición genética y los factores ambientales, entre los que la dieta y la baja ingestión de líquidos contribuyen a la formación de los cálculos. En niños y adolescentes las causas genéticas y anatómicas son las principales. La hipercalciuria idiopática es la causa más frecuente en estos grupos etarios, aunque, como en el adulto, los factores ambientales (ingestión dietética de sal, proteínas, calcio y otros nutrientes) pueden ganar importancia para su incremento. Entre los factores locales de la orina que favorecen la formación del cálculo se encuentran, la disminución del volumen urinario, el pH urinario bajo, la tendencia al estancamiento y las infecciones. En esta revisión se analizan brevemente las distintas causas que pueden producir litiasis, valorando la importancia de la ingestión adecuada de líquidos en general, las modificaciones dietéticas que deben realizarse en cada tipo de enfermedad litiásica, las diferentes medidas terapéuticas que deben utilizarse en el cólico nefrítico producido por litiasis, en los casos asintomáticos con litiasis demostrada y en los casos en que la litiasis pueda provocar obstrucción al flujo urinario
Urinary tract litiasis is a condition that is generally associated to metabolic impairments such as hypercalciuria, hypocitraturia, hyperphosphaturia, hyperuricosuria, hyperoxaluria, cystinuria and urinary acidification defect. However the true etiology of the disease is multifactoral and its formation involves genetic predisposition and environmental factors among which diet and low fluid intake contribute to the formation of calculi. The genetic and anatomic causes are the main factors in children and adolescents. Idiopathic hypercalciuria is the most frequent cause in these age groups, although as it occurs in the adult, the environmental factors (diet salt, protein, calcium and other nutrient intake) may be important for the disease. Among the local factors of the urine that may favor the formation of calculi are low urinary volume, low urinary pH, urinary retention and infections. This review briefly analyzed the various causes of lithiasis and assessed the importance of adequate fluid intake, the changes in diet that can be made according to the type of lithiasis, the different therapeutic actions that should be taken in case of lithiasis-caused renal colic, asymptomatic cases with proven lithiasis and in those cases in which lithiasis may obstruct urinary flow