Genetic and biochemical features of the monogenic hereditary urolithiasis [ГЕНЕТИЧЕСКИЕ И БИОХИМИЧЕСКИЕ ОСОБЕННОСТИ НАСЛЕДСТВЕННЫХ МОНОГЕННЫХ ФОРМ...
Михайленко Д. С., Просянников М. Y., Баранова А., Немцова М. В.
Биомедицинская химия
Т. 64, Вып. 4, С. 315-325
Опубликовано: 2018
Тип ресурса: Статья
DOI:10.18097/PBMC20186404315
Аннотация:
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
Ключевые слова:
Diagnostics; Fermentopathia; Germline mutation; Sequencing; Urolithiasis
differential diagnosis; genetic disorder; genetic predisposition; genetics; human; metabolism; mutation; urolithiasis; whole exome sequencing; Diagnosis, Differential; Genetic Diseases, Inborn; Genetic Predisposition to Disease; Humans; Mutation; Urolithiasis; Whole Exome Sequencing
Язык текста: Русский
ISSN: 2310-6905
Михайленко Д. С. Дмитрий Сергеевич 1981-
Просянников М. Y.
Баранова А.
Немцова М. В. Марина Вячеславовна 1962-
Mikhaylenko D. S. Dmitrij Sergeevich 1981-
Prosyannikov M. Y.
Baranova A.
Nemtsova M. V. Marina Vyacheslavovna 1962-
Genetic and biochemical features of the monogenic hereditary urolithiasis [ГЕНЕТИЧЕСКИЕ И БИОХИМИЧЕСКИЕ ОСОБЕННОСТИ НАСЛЕДСТВЕННЫХ МОНОГЕННЫХ ФОРМ МОЧЕКАМЕННОЙ БОЛЕЗНИ]
Genetic and biochemical features of the monogenic hereditary urolithiasis [ГЕНЕТИЧЕСКИЕ И БИОХИМИЧЕСКИЕ ОСОБЕННОСТИ НАСЛЕДСТВЕННЫХ МОНОГЕННЫХ ФОРМ...
Текст визуальный непосредственный
Биомедицинская химия
Научно-исследовательский институт биомедицинской химии им. В.Н. Ореховича
Т. 64, Вып. 4 С. 315-325
2018
Статья
Diagnostics Fermentopathia Germline mutation Sequencing Urolithiasis
differential diagnosis genetic disorder genetic predisposition genetics human metabolism mutation urolithiasis whole exome sequencing Diagnosis, Differential Genetic Diseases, Inborn Genetic Predisposition to Disease Humans Mutation Urolithiasis Whole Exome Sequencing
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