Fingertips Ischemia, Nephroangiosclerosis, and Focal Segmental Glomerulosclerosis: Is Genetic Thrombophilia the Unique Explanation?

Case Presentation . 53-years-old-man with essential hypertension and nonnephrotic proteinuria (1.3 gr/24 h) and with normal renal function (eGFR-MDRD 123 mL/min/1.73 m 2 ) was admitted to nephrology department; kidney biopsy showed FSGS; two years later the patient presented with ulceration and ischemic gangrene of the IV and V right-hand fingertips; genetic analysis demonstrated polymorphism of the methylenetetrahydrofolate reductase genes C677T (heterozygote C677T/1298AC with normal value of homocysteine) and mutations of prothrombin gene G20210A and of plasminogen activator inhibitor-1 4G/5G 675 with slight increase of its value. After five years from biopsy, 24-hours proteinuria was still around 1–1.3 g/die; renal function was still normal (eGFR 107 ml/min/1.73 m 2 ). These data are against the previous diagnosis of primary FSGS. We hypothesize that genetic thrombophilia may explain all the clinical signs of our patient. Conclusions . Alterations in genes of thrombophilia should be ruled out in patients with bioptic diagnosis of “primary” FSGS, in particular if clinically atypical.