%0 Journal Article
%T Fingertips Ischemia, Nephroangiosclerosis, and Focal Segmental Glomerulosclerosis: Is Genetic Thrombophilia the Unique Explanation?
%A Lisa Giovannini
%A Carlo Donadio
%J Case Reports in Medicine
%D 2014
%I Hindawi Publishing Corporation
%R 10.1155/2014/832592
%X 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£¿m2) 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¨C1.3£¿g/die; renal function was still normal (eGFR 107£¿ml/min/1.73£¿m2). 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. 1. Background Focal segmental glomerulosclerosis is a histopathological pattern of lesions, where ¡°focal¡± refers to involving minority of glomeruli and the ¡°segmental¡± refers to involving a portion of the glomerular capillary tuft, caused by injury of podocytes. Clinically it manifests proteinuria which can progress to nephrotic syndrome and eventually to end stage renal failure. Some clinical and analytical data can be extremely helpful to differentiate primary or genetic forms of FSGS from hyperfiltering types. A slow increase of proteinuria and the absence of hypoalbuminemia and edema even in the presence of massive proteinuria are very characteristic of hyperfiltering FSGS. This is in contrast with the rapid appearance of nephrotic syndrome and a rapid decrease of renal function in primary types. The distinction between the different types of FSGS is crucial, since their treatment is radically different. Thrombotic microangiopathy is a rare cause of adaptative FSGS due to inherited thrombophilia. The aim of this paper is to suggest that inherited thrombophilia should be considered as possible cause of secondary FSGS. 2. Case Presentation In this paper we report the case of a 53-year-old Italian man (body weight 85£¿Kg, height 1.85£¿m, and BMI 24.8£¿kg/m2) with familiarity for cardiovascular and renal disease (the father, affected by hypertension and chronic kidney disease, died at 55 years due to acute myocardial infarction). The patient had been diagnosed as having moderate
%U http://www.hindawi.com/journals/crim/2014/832592/