Kidney involvement in rare hereditary diseases

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Abstract

Various rare inherited disorders can be associated with kidney involvement, including glomerulopathies, tubulopathies, multiple cysts, congenital anomalies of the kidneys and urinary tract, urolithiasis, malignant and benign tumors. Genetic nephropathy should be always considered in children, adolescents and young patients with the kidneys or urinary tract disorders and/or patients with positive family anamnesis. Extrarenal manifestations can be a valuable clue for diagnosis of certain hereditary diseases, e.g. neurosensory deafness in Alport syndrome or photofobia in nephropathic cystinosis. Diagnosis of monogenic inherited diseases should be verified by genetic testing. Specific drugs are available for treatment of certain hereditary diseases involving kidney, e.g. Fabry disease, cystinosis, primary hyperoxaluria I type and atypical hemolytic uremic syndrome.

About the authors

Sergey V. Moiseev

Sechenov First Moscow State Medical University (Sechenov University); Lomonosov Moscow State University

Author for correspondence.
Email: avt420034@gmail.com
ORCID iD: 0000-0002-7232-4640

чл.-кор. РАН, д-р мед. наук, проф., зав. каф. внутренних, профессиональных болезней и ревматологии Института клинической медицины им. Н.В. Склифосовского, дир. Клиники ревматологии, нефрологии и профпатологии им. Е.М. Тареева Университетской клинической больницы №3 , проф. каф. внутренних болезней фак-та фундаментальной медицины

Russian Federation, Moscow; Moscow

Eugene M. Shilov

Sechenov First Moscow State Medical University (Sechenov University)

Email: avt420034@gmail.com
ORCID iD: 0000-0002-2111-191X

д-р мед. наук, проф. каф. внутренних, профессиональных болезней и ревматологии Института клинической медицины им. Н.В. Склифосовского

Russian Federation, Moscow

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