Rare inherited diseases with kidney involvement: approaches to diagnosis and treatment

Moiseev S.: Tareev Clinic of Internal Diseases, Sechenov First Moscow State Medical University, Moscow, Russia

Chebotareva N.: Tareev Clinic of Internal Diseases, Sechenov First Moscow State Medical University

Bulanov N.: Tareev Clinic of Internal Diseases, Sechenov First Moscow State Medical University, Moscow, Russia

Shilov E.M.

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Summary

Many rare inherited disorders can be associated with the various types of kidney involvement, including glomerular disease, tubulopathies, congenital anomalies of the kidneys and urinary tract, urolithiasis, multiple cysts, malignant and benign tumors. Hereditary nephropathy should be always considered in children, adolescents and young patients with the kdineys or urinary tract disorders and/or patients with positive family anamnesis although certain genetic diseases can manifest in adult or even in the elderly whereas proband family members frequently show no signs of the disease. Extrarenal manifestations can be a valuable clue for diagnosis of various genetic disorders, e.g. neurosensory deafness in Alport syndrome, cornea verticillata and angiokeratoma in Fabry disease, photofobia in nephropathic cystinosis. Genetic tests are essential for verification of monogenic inherited diseases. In the nearest future, whole-exome or genome sequencing at constantly decreasing cost may replace targeted sequencing of the known causal gene(s) or gene panels, particularly when various inherited disorders present with the similar clinical phenotypes.

Key words

Orphan diseases, kidney involvement, genetic tests, whole-exome sequencing, treatment.