Lack of Association between PTPN22 Gene +1858 C>T Polymorphism and Susceptibility to Generalized Vitiligo in a Turkish Population

BACKGROUND: Vitiligo is an autoimmune polygenic disorder characterized by loss of pigmentation due to melanocyte destruction. The PTPN22 gene +1858 C>T single nucleotide polymorphism (rs2476601) has been shown to be associated with various autoimmune disorders. OBJECTIVE: The aim of this study was to investigate whether the PTPN22 gene +1858 C>T single nucleotide polymorphism is associated with susceptibility to generalized vitiligo in a Turkish population. METHODS: One hundred and seven patients with generalized vitiligo, and one hundred and twelve gender-, age-, and ethnic-matched controls were enrolled in the study. Genotyping was done by polymerase chain reaction-restriction fragment length polymorphism. RESULTS: The PTPN22 +1858 C>T genotype and allele frequencies of the generalized vitiligo patients did not differ significantly from those of healthy controls. CONCLUSION: We found no association between the PTPN22 +1858 C>T gene polymorphism and vitiligo susceptibility in Turkish generalized-vitiligo patients.

Predictive Role of Acute Phase Reactants in the Response to Therapy in Patients with Chronic Hepatitis C Virus Infection

BACKGROUND/AIMS: Biochemical parameters and acute-phase proteins (APPs) may provide complementary data in patients with chronic hepatitis C (CHC). We aimed to evaluate the predictive role of APPs in the response to antiviral therapy. METHODS: Forty-five patients underwent antiviral therapy. Serum ferritin, C-reactive protein (CRP), transferrin, albumin, alpha-1 acid glycoprotein (A1AG), and alpha-2 macroglobulin (A2MG) levels were examined at the initial evaluation and at the 4th, 12th, and 48th weeks. HCV RNA levels were examined at the initial evaluation and at the 12th and 48th weeks. RESULTS: Ferritin, transferrin, A1AG, and A2MG levels were significantly higher in the patient group (p<0.05). CRP, ferritin, A1AG, and A2MG levels were significantly increased from baseline to the 4th week (p<0.05). The responders and nonresponders to antiviral therapy had insignificantly but remarkably different levels of CRP, ferritin, transferrin, A1AG, A2MG, and alanine aminotransferase (ALT) both at the initial evaluation and at the 12th week. CONCLUSIONS: Variations in ferritin, A1AG, A2MG, albumin, CRP, and transferrin levels are not alternatives to virological and biochemical parameters for predicting an early response to therapy in patients with CHC. However, the investigation of ALT levels and hepatitis C virus RNA in combination with acute-phase reactants may provide supplementary data for evaluating responses to antiviral therapy.

Tuberous sclerosis presented with polycystic kidney disease and acute renal failure

Tuberous sclerosis complex [TSC] is an autosomal dominant disorder characterized by hamartomatous involvement of multiple organs such as the skin, central nervous system, kidneys, lungs, and heart. A linkage has been found with a locus on the long arm of chromosome 9 [9q34] and with a locus on the short arm of chromosome 16 [16p13]. TSC has a birth incidence of 1/6000. Children with TSC are almost universally born with normal kidneys, but cystic disease and angiomyolipomas develop with increasing age. Angiomyolipomas, renal cysts, and renal cell carcinoma are classical features of renal involvement in TSC. Renal complications are the most common cause of death in adult TSC patients, thus renal involvement has a crucial importance on the course of this disease. We present a 27-year-old patient previously diagnosed as tuberous sclerosis complex and referred with acute renal failure and polycystic kidney disease