ABSTRACT
Purpose: To describe the clinical presentation and demographic distribution of retinitis pigmentosa (RP) in Laurence–Moon–Bardet–Biedl (LMBB) syndrome patients. Methods: This is a cross?sectional observational hospital?based study wherein 244 patients with RP in LMBB syndrome presenting to our hospital network between March 2012 and October 2020 were included. An electronic medical record database was used for data retrieval. Results: There were 244 patients in total, with a hospital?based prevalence rate of 0.010% or 1000/100,000 population. The mean and median age of patients was 15.22 ± 7.56 and 14 (IQR: 10–18.5) years, respectively, with the majority being in the age group of 11–20 years (133/244 patients; 54.50%). Males were more commonly affected (164 patients; 67.21%), and the majority (182 patients; 74.59%) were students. All 244 patients (100%) complained of defective central vision at presentation. More than one?fourth of the patients had severe visual impairment to blindness at presentation. Prominent retinal feature at presentation was diffuse or widespread retinal pigment epithelial degeneration in all patients. Conclusion: Patients with RP in LMBB syndrome present mainly in the first to second decade of life with severe visual acuity impairment to blindness early in life. It is important to rule out LMBB syndrome in early?onset RP with central visual acuity impairment. On the contrary, all patients diagnosed or suspected with LMBB syndrome systemic features at physician clinic should also be referred for ophthalmic evaluation, low vision assessment, rehabilitation, and vice versa
ABSTRACT
PURPOSE: Henoch-Schonlein purpura nephritis(HSPN) accompanied by nephrotic syndrome(NS) is known to have a poor prognosis and effective treatment is still controversial, even though both corticosteroids and immunosuppresant have been used for therapy. Cyclosporine A(CsA) is a well known immunosuppresant and widely used in renal transplantation and glomerular diseases especially steroid resistant. The aims of this study was to evaluate the therapeutic effect of CsA and to compare CsA with previously reported our data of rifampin(RFP) and azathioprine(AZA) in children with HSPN accompanied by NS. METHODS: 37 HSPN patients with NS confirmed by renal biopsy were selected. Of these, 17 patients were treated with CsA(5 mg/kg/day) for 6-8 months, 7 children were treated with RFP(10-20 mg/kg/day) for 9-12 months and 13 patients were treated with AZA(2 mg/kg/day) for 8 months. Along with these regimens, low dose oral prednisolone(0.5-1 mg/kg, qod) was also used. Sequential renal biopsy was done in all patients 1 month after termination of treatment. RESULTS: Complete remission rate of nephrotic syndrome was 5S.8% in CsA, 57.1% in RFP and 38.4% in AZA group after 17, 22, 11 months of mean follow-up period. Overall remission rate including partial remission was 88.2% in CsA, 85.7% in RFP and 84.6% in AZA group. Disappearance rate of hematuria was 58.8% in CsA, 57.1% in RFP and 46.2% in AZA group. Improvement of grade of clinical status was observed in 17 out of 17 CsA, 7 out of 7 RFP and 10 out of 13 AZA group. Improvement of pathologic class on sequencial renal biopsy was shown in 5 CsA(29.4%), none RFP(0%) and 2 AZA group(12.4%). Improvement on histologic immune-deposition was seen in 15 CsA(88.2%), 6 RFP(85.9%) and 4 AZA group(30.8%). CONCLUSION: In conclusion, Both CsA and RFP treated groups showed better result in complete remission rate of nephrotic syndrome and significant inprovement of histologic immune-deposition compared with AZA treated group(p=0.004). So, we recommend CsA and RFP rather than AZA for immunosuppresant treatment in HSPN with nephrotic syndrome.