Hala M. Lotfy

Damage index in childhood-onset systemic lupus erythematosus in Egypt

BackgroundTo investigate the prevalence of cumulative organ damage among Egyptian children with juvenile-onset systemic lupus erythematosus (jSLE) and the relationships between the organ damage and the demographic data, clinical variables, and disease activity.MethodsA total of 148 patients with jSLE have been followed in the pediatric rheumatology clinic and section at Cairo University. These patients were evaluated by retrospective chart review. The organ system damage due to SLE was measured using the Systemic Lupus International Collaborating Clinics/American College of Rheumatology Damage Index (SDI). Risk factors for damage were also studied including demographic criteria as well as clinical and laboratory manifestations.ResultsOverall, 43.9% of the patients had damage within a mean of 6.57 ± 3.59 years of disease diagnosis. Neuropsychiatric (NPS-21%) and renal (16.9%) system involvement were observed most frequently, followed by cardiovascular (11.5%), skin (9.5%), pulmonary (6.1%), and ocular (4.8%), with a mean SDI score of 0.93 ± 1.37. In our study, the presence of neuropsychiatric manifestations at diagnosis showed the strongest association with the presence of later disease damage.The number of SLE diagnostic criteria at presentation was strongly associated with the total SDI score, and the renal damage was significantly more prevalent in patients with age at disease diagnosis below 10 years of age. A higher mean disease duration was found in patients with musculoskeletal damage.ConclusionWe found that cumulative organ damage, as measured by the SDI, was present in 43.9% of Egyptian patients with juvenile-onset SLE. The damage was significantly more likely in patients who had more SLE diagnostic criteria at time of disease presentation and NPS manifestations at the time of diagnosis.

MEFV gene mutations in Egyptian children with Henoch-Schonlein purpura

BackgroundDue to an increased frequency of vasculitis in FMF patients, many investigators have studied MEFV mutations in patients with HSP. The aim of the study is to investigate the frequency and clinical significance of MEFV mutations in Egyptian children with Henoch-Schonlein purpura (HSP). Investigating MEFV mutations in controls may help in estimating the prevalence of MEFV mutation carrier rate in Egyptian children.MethodsThe study enrolled 90 individuals, sixty children with Henoch-Schonlein purpura (HSP), together with 30 sex-and age-matched apparently healthy controls. The entire study group was screened for 12 common MEFV mutations using a reverse hybridization assay of biotinylated PCR products.ResultsPatients with HSP had a significantly higher frequency of MEFV mutations (61.7%), when compared to the apparently healthy control population (36.7%). V726A was the most frequent mutation with an allelic frequency of 10.8%. Ninety- one percent of patients with MEFV mutations were heterozygous for one mutation, while 8.1% had a compound heterozygous MEFV gene mutations. The mutation V726A, followed by E148Q, were the leading mutations, present in 16.6% and in 13.3% of controls.ConclusionsMEFV mutations may be related to HSP susceptibility in children. The mutations were not associated with any clinical and laboratory manifestations. Screening for MEFV mutations in larger number of HSP children may be beneficial to evaluate any possible relationship between certain types of MEFV mutations and HSP, and compare the HSP MEFV mutations to the types of MEFV mutations associated with FMF.

Detection of Mediterranean fever gene mutations in Egyptian children with inflammatory bowel disease

The aim of the current study is to investigate the prevalence of familial Mediterranean fever gene (MEFV) mutations in a cohort of Egyptian children with inflammatory bowel disease (IBD), and to characterize familial Mediterranean fever (FMF)‐IBD patients, helping better understanding of IBD pathogenesis.

Study of serum syndecan-1 levels in a group of Egyptian juvenile systemic lupus erythematosus patients

The aim of the study was to assess the serum levels of Syndecan-1 in a group of Egyptian juvenile systemic lupus erythematosus (JSLE) patients and to study any possible associations with disease activity, renal activity and organ damage. Serum level of Syndecan-1 was assessed in 60 Egyptian JSLE patients and 30 apparently healthy age and gender matched children using ELISA. SLE Disease Activity Index-2000 (SLEDAI-2K), renal SLEDAI-2K, renal activity score and the Systemic Lupus International Collaborating Clinics/American College of Rheumatology (SLICC/ACR) Damage Index were assessed for all patients. Serum SDC-1 levels were higher in patients with JSLE than in healthy controls (p<0.001) and were positively correlated with SLEDAI-2K (p<0.001), with renal SLEDAI score (p=0.008) and renal activity score (p=0.04). So, Syndecan-1 might be used as a marker for disease activity and renal activity in JSLE patients.

Serum vitamin D level in Egyptian children with Familial Mediterranean fever

BACKGROUND The aim of the study is to measure plasma vitamin D levels in a group of Egyptian children with familial Mediterranean fever (FMF) compared to healthy children. METHODS The study enrolled 52 children with FMF and 40 apparently healthy controls. Serum vitamin D level was measured by enzyme-linked immunosorbent assay. RESULTS The mean serum vitamin D level was significantly lower in children with FMF than control group (12.3±3.4 and 21.2±3.5ng/mL, respectively, p<0.001). Vitamin D level was significantly lower in female patients than males (11.3±2.9, 13.2±3.6, respectively p=0.04). No statistically significant relations were detected between vitamin D level and different clinical, laboratory and genetic variables. CONCLUSION Vitamin D levels were lower in Egyptian FMF children than healthy controls. There is a speculation that vitamin D deficiency in FMF patients may be related to inflammation. Further studies with larger number of patients before and after Vitamin D, therapy may be needed. Supplementation with high doses of vitamin D seems appropriate for children with FMF.

Mean Platelet Volume and Splenomegaly as Useful Markers of Subclinical Activity in Egyptian Children with Familial Mediterranean Fever: A Cross-Sectional Study

Objective. To study whether mean platelet volume (MPV) and splenomegaly could be used as subclinical inflammatory markers in children with familial Mediterranean fever (FMF) at the attack-free period. Patients and Methods. The study included ninety-seven children with FMF. MPV was carried out within 4 hours of blood sampling according to standard laboratory practice. Splenomegaly was determined by abdominal ultrasound (USG). Results. High MPV was detected in 84.45% of our studied patients and was significantly higher in FMF patients with splenomegaly than in patients without splenomegaly. There was a statistically significant correlation between MPV and splenic span (P = 0.045). Conclusion. Elevated MPV and its significant correlation with splenic span in FMF children during the attack-free periods support the use of MPV and splenomegaly as useful markers of the subclinical inflammation in FMF patients at the attack-free period.

Pulmonary involvement in juvenile-onset systemic lupus erythematosus patients asymptomatic for respiratory disease

Objective The aim of this study was to investigate the presence and frequency of abnormalities in subclinical pulmonary function tests (PFTs) in a group of Egyptian children with juvenile-onset systemic lupus erythematosus (jSLE) asymptomatic for respiratory manifestations. Patients and methods The study enrolled 20 children with jSLE followed up at the Pediatric Rheumatology Clinic, Cairo University. For all patients, pulmonary function testing was performed including measurement of lung volumes and lung flows using spirometry. Lung diffusion testing was performed using the transfer factor of the lung for carbon monoxide (DLCO) utilizing the single-breath method. Findings were correlated with clinical manifestations and lupus disease activity, and assessed using Systemic Lupus Erythematosus Disease Activity Index (SLEDAI) scores. Results NAmong our study group, musculoskeletal, mucocutaneous, hematologic, renal, and neurological manifestations were the most frequent lupus manifestations throughout the course of disease, occurring in 85, 80, 65, 45, and 35% of the patients, respectively. The mean SLEDAI score was 21.3 ΁ 9.515. Overall, 95% our patients had at least one PFT abnormality within a mean of 4.9 ΁ 1.94 years after disease onset. Diffusion defect was the most frequent defect detected in 14 (70%) patients, restrictive pathology was found in seven (35%) patients, obstructive pathology was found in six (30%) patients, and mixed restrictive and obstructive pathology in one (5%) patient. In terms of the correlation between PFTs and the SLEDAI, DLCO was correlated positively (r = 0.37, P = 0.05) to a high SLEDAI, that is, a diffusion defect was significantly evident in patients with high disease activity even without symptoms. Conclusion Occult pulmonary disease as shown by a PFT occurs frequently in our group of Egyptian patients with childhood-onset systemic lupus erythematosus.