The following is a summary of “Beyond the kidney: extra-renal manifestations of monogenic nephrolithiasis and their significance,” published in the December 2023 issue of Nephrology by Wu et al.
Researchers conducted a retrospective study to systematically evaluate the frequency of extra-renal manifestations associated with monogenic kidney stones.
They conducted a literature review to identify genes responsible for monogenic nephrolithiasis. The Online Mendelian Inheritance in Man (OMIM) database was utilized to identify associated diseases and their properties. OMIM clinical synopses were used to ascertain disease phenotypes, sorted into 24 different phenotype categories as per OMIM classification. Disease phenotypes generated by the same gene were merged into a phenotypic profile of a gene (PPG), encompassing all related disease phenotypes for a specific gene. Measured PPG count per phenotype category and determined the median category. Phenotype categories were classified as overrepresented or underrepresented based on whether the number of PPGs involving them was higher or lower than the median. Performed a Chi-square test to assess if PPG counts per category significantly deviated from the median.
The results showed 55 genes as monogenic causes of nephrolithiasis. Six phenotype categories were significantly overrepresented, and three were significantly underrepresented (P<0.05). After Bonferroni correction, four phenotypic categories (growth, neurological, skeletal, and abdomen/gastrointestinal) remained significantly overrepresented (P<0.002). Impaired growth emerged as the most common manifestation among all phenotypes.
Investigators concluded that recognizing extra-renal symptoms of genetic kidney stones led to earlier diagnoses and improved patient outcomes.
Source: link.springer.com/article/10.1007/s00467-023-06242-z
