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Background:Although advancements have been made in the management of thalassemic patients, many unrecognized complications have emerged, such as renal abnormalities. Aim: To measure serum levels of cystatin-C and β-2 microglobulin in children with betathalassemia major (β-TM) and investigate their significance as early markers of glomerular and tubular dysfunctions. Subjects and methods:The study was performed on 70 children with (β-TM) and 20 apparently healthy children matched for age and sex as a control group. For all the enrolled children, a comprehensive medical history was obtained and complete physical examination was performed, blood urea, serum creatinine, serum ferritin, estimated glomerular filtration rate (eGFR) by Schwartz formula and creatinine clearance, albumin/creatinine ratio in urine, serum cystatin-C levels and β-2 microglobulin were measured. Results: Thalassemic children had significantly higher cystatin-C and β-2 microglobulin levels compared with control. In addition, serum cystatin-C and β-2 microglobulin were positively correlated with urea, creatinine, serum ferritin, albumin/creatinine ratio, duration of chelation therapy and frequency of blood transfusion/year and negatively correlated with creatinine clearance, hemoglobin, and eGFR. Our data demonstrated that cystatin-C and β-2 microglobulin had higher sensitivity and specificity (91.4%, 90.0%, and 85.7%, 100%, respectively) than serum creatinine and creatinine clearance (83.0%, 100% and 81.4%, 100%, respectively) for small changes in GFR. Conclusion: Cystatin-C and β-2 microglobulin are specific and sensitive early biomarkers for monitoring glomerular and tubular dysfunction in children with β-TM.

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Background: TWEAK/Fn14 is expressed in many tissues including the skin, playing an important role in many inflammatory, autoimmune, and neoplastic cutaneous disorders. Aims: To assess the serum levels of tumor necrosis factor-like weak inducer of apoptosis (TWEAK) in vitiligo patients. Methods: This case-control study included 100 subjects (50 vitiligo patients and 50 control subjects) recruited from Dermatology Outpatient Clinic, Benha University. All patients were subjected to complete cutaneous examination, to evaluate the clinical type, distribution and severity of vitiligo using the Vitiligo Area Scoring Index (VASI). Results: TWEAK serum levels were significantly higher in patients than in the control subjects (644.76 ± 688.93 vs 282.75 ± 125.67, respectively). Serum levels were significantly elevated in segmental versus nonsegmental vitiligo. Receiver operating characteristic (ROC) analysis revealed that TWEAK shows 80% sensitivity and 56.67% specificity in diagnosing vitiligo and 100% sensitivity and 80.09% specificity in differentiating segmental from nonsegmental vitiligo. Conclusion: TWEAK may play a role in vitiligo pathogenesis. It may be used in the differentiation between segmental and nonsegmental vitiligo and represent a promising therapeutic target in vitiligo.

Human beta defensin‐1(hBD‐1); an antimicrobial peptide, has immune regulatory effects which may be involved in autoimmunity. The aims were to evaluate the association between defensin beta 1 (DEFB1) (‐44 C/G) and (‐20 G/A) gene polymorphisms with the risk of vitiligo development, the extent of the disease and the response to NB‐UVB treatment in a sample of Egyptian population. 178 active nonsegmental vitiligo patients and 182 control subjects were included in this prospective case control study. Vitiligo extent was evaluated using vitiligo area scoring index (VASI). Gene polymorphisms in all participants were studied by RFLP PCR technique. Patients were treated by three narrowband UVB (NB‐UVB) treatment sessions per week. After 12 weeks, the patients were reevaluated clinically to assess the extent of the disease using VASI scoring again and to evaluate the type of repigmentation, if any. AA genotype of DEFB1 (‐20G/A) has a protective role against vitiligo development, while (DEFB1 ‐44 C/G) GG genotype and G allele increase the risk of vitiligo development about two folds. Patients carrying polymorphism in DEFB1 (‐20G/A) only showed the lowest VASI scores (14.23 ± 2.77) and the highest percentage of improvement (66.12 ± 18.01%), while patients carrying polymorphism in DEFB1(‐44 C/G) only showed the highest baseline VASI scores (38.87 ± 6.7) and the lowest therapeutic response (23.79 ± 19.42%) among all patients groups. Different DEFB1 gene polymorphisms may modify the risk of vitiligo development, the disease extent and the response to NB‐UVB phototherapy.