Ecological geneticsEcological geneticsЭкологическая генетика1811-09322411-9202Eco-Vector69565410.17816/ecogen695654Human ecological geneticsЭкологическая генетика человекаCystinuria in Clinical Practice: Challenges in Genetic Verification and Laboratory Diagnosishttps://orcid.org/0000-0002-7825-273X6019-1547SopovaJulia V.СоповаЮлия Викторовна
Russian Federation

PhD, Leading Researcher, Center for transgenesis and genome editing

sopova@hotmail.comhttps://orcid.org/0009-0005-1124-33601019-8610LuganskayaPolina S.ЛуганскаяПолина Сергеевна
Russian Federation

Junior Researcher, Center for transgenesis and genome editing

polina.luganskaja@yandex.ruhttps://orcid.org/0009-0007-4108-61617921-4448KandinaDaria A.КандинаДарья Алексеевна
Russian Federation

research engineer, Center for transgenesis and genome editing

candyda20@mail.ruhttps://orcid.org/0009-0008-8920-67055952-4539AkhmarovIlyas I.АхмаровИльяс Идрисович
Russian Federation

research assistant, Center for transgenesis and genome editing

luvk7411@yandex.ruhttps://orcid.org/0009-0004-3400-66787459-9945KirillovOleg A.КирилловОлег Андреевич
Russian Federation

research assistant, Center for transgenesis and genome editing

o-kirillov03@mail.ruhttps://orcid.org/0000-0002-0236-33022573-1759LeonovaElena I.ЛеоноваЕлена Ивановна
Russian Federation

PhD in biology, Head, Center for transgenesis and genome editing

1102.elena@gmail.comSaint-Peterburg State UniversitySaint-Petersburg State UniversitySaint-Petersburg State University198504 Russia Saint-Petersburg Botanicheskaya str, 17010420262423110202529032026Copyright ©; , Eco-VectorCopyright ©; , Эко-ВекторEco-VectorЭко-Векторhttps://eco-vector.com/for_authors.php#07https://journals.eco-vector.com/ecolgenet/article/view/695654

Cystinuria is an inherited disorder caused by impaired reabsorption of cystine and dibasic amino acids - ornithine, lysine, arginine - in the proximal renal tubules. The genetic basis of cystinuria involves mutations in the SLC3A1 gene (encoding the heavy subunit of the rBAT transporter) and the SLC7A9 gene (encoding the light subunit b0,+AT). Dysfunction of the rBAT-b0,+AT transporter leads to excessive cystine excretion, which has low solubility at physiological urine pH, promoting the formation of calculi. The inheritance pattern of cystinuria varies: mutations in SLC3A1 typically follow an autosomal recessive mode, whereas mutations in SLC7A9 exhibit a broader spectrum, ranging from recessive to dominant inheritance. Notably, approximately 10% of patients lack detectable mutations in these genes, suggesting the potential involvement of non-coding regulatory regions or modifier genes. This review synthesizes current understanding of renal cystine transport and explores complex clinical cases that deviate from the classical autosomal recessive model associated with SLC3A1 mutations.

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