Clinical significance of small nerve fiber involvement in the early diagnosis and treatment of patients with Fabry disease.

INTRODUCTION: Peripheral nervous system is early involved in Fabry disease (FD) and preferentially the small nerve fibers, causing the characteristic neuropathic pain crises usually beginning in childhood. Early detection of this likely underdiagnosed disease is an important approach because causal therapies are available. METHODS: We conducted a case-series study to investigate the small nerve fiber involvement in FD and its contribution to the diagnosis of the disease but also to the timely effective therapy administration. We used specific structured scales of symptoms and signs to detect peripheral neuropathy, as well as suitable functional and structural tests to diagnose the small fiber neuropathy (SFN). RESULTS: Twenty-seven consecutive patients (14 men, mean age 44.62 ± 10.70 years) with suspected FD were included in this study. Most of the patients presented symptoms of small nerve fiber involvement, which were accompanied by abnormal test results, fulfilling the criteria for SFN. The detection of SFN in our patients allowed the completion of the FD diagnostic criteria and thus the initiation of therapy. In five patients the SFN diagnosis determined the administration of therapy, whereas in two others it might be considered. CONCLUSION: Our results further suggest the importance of early diagnosis of peripheral neuropathy, especially of small nerve fiber involvement, in patients with suspected FD as it contributes crucially not only to the diagnosis but also to the timely effective initiation of FD therapy.

A Rare Case of Nephrotic Syndrome in the Setting of Sjogren Syndrome-related Cryoglobulinemic Vasculitis.

Cryoglobulinemia is a rare entity which frequently occurs in the setting of an underlying disease, with chronic hepatitis C virus infections and primary Sjogren syndrome being the most common underlying conditions. Cryoglobulinemic vasculitis (CV) is an immune-mediated type of small-vessel vasculitis with a broad spectrum of specific organ involvement, including renal, pulmonary, peripheral nerve, and cutaneous involvement and variable manifestations that can be life threatening. Moreover, a strong relationship between cryoglobulinemia and CV, with the future development of lymphoma, is well established. We present the case of a 72-year-old Caucasian male referred for nephrotic syndrome and acute renal injury. A diagnosis of Sjogren syndrome-associated CV was made, and he was successfully treated with rituximab and plasma exchange sessions.

Fibrillary Glomerulonephritis with Atypical Immunoglobulin M Deposits and Hypocomplementemia Revealed Human Immunodeficiency Virus Infection.

Fibrillary glomerulonephritis (FGN) is a rare form of glomerulonephritis, and the incidence in native renal biopsies is less than 1%. The diagnosis of FGN is defined by the ultrastructural finding of organized, randomly oriented, nonbranching fibrils with a diameter of 10-30 nm. FGN is immune-mediated glomerulonephritis with predominant immunoglobulin (Ig) G deposits. Hypocomplementemia is very rare. We report the case of a 68-year-old Caucasian man with renal impairment, hematuria, subnephrotic proteinuria, hypocomplementemia (low C4, normal C3), and hypergammaglobulinemia. The kidney biopsy revealed a mesangial proliferative pattern with IgM deposits, and the electron microscopy demonstrated FGN. Upon further investigation, secondary causes, such as malignancy, monoclonal gammopathy, or autoimmune disease were excluded, and human immunodeficiency virus (HIV) infection was revealed. Only three cases with FGN associated with HIV infection without concurrent hepatitis C virus have been reported and all of them in already known medical records. Our patient received treatment with corticosteroids and highly active antiretroviral therapy, and the renal function improved.