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Due to widening acceptance of exome and gene panel sequencing, substantially larger  percentages of urolithiasis cases are now attributed to hereditary causes, up to 20% among patients of 18 years old  or younger. Here we review genetic and biochemical mechanisms of urolithiasis, with an emphasis on its hereditary  forms, including fermentopathies (primary hyperoxaluria, adenine phosphorobosyltransferase deficiency,  phosphoribosyl-pyrophosphate-synthetase deficiency, xanthinuria, Lesch-Nihan syndrome) and these caused  by membrane transport alterations (Dent's disease, familial hypomagnesia with hypercalciuria and nephrocalcinosis,  hypophosphatemic urolithiasis, distal tubular acidosis, cystinuria, Bartter's syndrome). We suggest a comprehensive  gene panel for NGS diagnostics of the hereditary urolithiasis. It is expected that accurate and timely diagnosis  of hereditary forms of urolithiasis would enable the counselling of the carriers in affected families, and ensure  personalized management of the patients with these conditions.<\/jats:p>","DOI":"10.18097\/pbmc20186404315","type":"journal-article","created":{"date-parts":[[2018,8,23]],"date-time":"2018-08-23T07:29:23Z","timestamp":1535009363000},"page":"315-325","source":"Crossref","is-referenced-by-count":1,"title":["Genetic and biochemical features of the monogenic hereditary urolithiasis"],"prefix":"10.18097","volume":"64","author":[{"given":"D.S.","family":"Mikhaylenko","sequence":"first","affiliation":[{"name":"Institute of Molecular Medicine of the Sechenov First Moscow State Medical University (Sechenov University), Moscow, Russia; Lopatkin Research Institute of Urology and Interventional Radiology - branch of the National Medical Research Center of Radiology, Moscow, Russia; Research Centre for Medical Genetics, Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.Y.","family":"Prosyannikov","sequence":"additional","affiliation":[{"name":"Lopatkin Research Institute of Urology and Interventional Radiology - branch of the National Medical Research Center of Radiology, Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Baranova","sequence":"additional","affiliation":[{"name":"Center for the Study of Chronic Metabolic and Rare Diseases, George Mason University, Fairfax, Virginia, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.V.","family":"Nemtsova","sequence":"additional","affiliation":[{"name":"Institute of Molecular Medicine of the Sechenov First Moscow State Medical University (Sechenov University), Moscow, Russia; Research Centre for Medical Genetics, Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"7443","published-online":{"date-parts":[[2018]]},"reference":[{"key":"ref1","unstructured":"Goldstein B., Goldfarb D.S. 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