Genetic and biochemical features of the monogenic hereditary urolithiasis

   


1. 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
2. Lopatkin Research Institute of Urology and Interventional Radiology - branch of the National Medical Research Center of Radiology, Moscow, Russia
3. Center for the Study of Chronic Metabolic and Rare Diseases, George Mason University, Fairfax, Virginia, USA
4. Institute of Molecular Medicine of the Sechenov First Moscow State Medical University (Sechenov University), Moscow, Russia; Research Centre for Medical Genetics, Moscow, Russia
Type: Review
DOI: 10.18097/PBMC20186404315      PubMed Id: 30135278
Year: 2018 vol: 64  issue:4  pages: 315-325
Abstract: Urolithiasis is a common urological problem. In most cases, this multifactorial pathology develops due to the combination of inherited low-penetrance gene variants and environment factors such as urinary tract infections and unbalanced diet. However, some cases are monogenic. These hereditary forms of urolithiasis manifest in childhood, and are characterized by multiple, bilateral and recurrent kidney stones and progress to chronic renal failure relatively early. 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.
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Reference: Mikhaylenko D.S., Prosyannikov M.Y., Baranova A., Nemtsova M.V., Genetic and biochemical features of the monogenic hereditary urolithiasis, Biomeditsinskaya khimiya, 2018, vol: 64(4), 315-325.
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