Juvenile systemic lupus erythematosus in Bahrain. A tertiary referral center experience.

OBJECTIVE: To analyze the clinical and serological features of children with systemic lupus erythematosus (SLE) in a major referral center in Bahrain and to assess the comorbidity, its morbidity, and mortality. METHODS: We retrospectively reviewed the medical charts of children with SLE treated in the Pediatric Rheumatology Clinic at Salmaniya Medical Complex, Kingdom of Bahrain from 1998 to 2007. The ethical approval for the study was obtained from the Research Health Committee, Ministry of Health, Kingdom of Bahrain. RESULTS: Thirty-two children with SLE were identified. Thirty-one (96.8%) were Bahrainis. The mean age was 14 +/- 4 years, the mean age of disease onset was 9 +/- 4 years and the mean duration of illness was 7 +/- 5 years. The female to male ratio was 2.5:1. Twenty-five percent of the cases had relatives with SLE. Eight patients (25%) had sickle cell anemia (SCA). Systems involved were as follows: skin (93%), kidney (81%), musculoskeletal system (65%), blood (56%), gastrointestinal tract (31%), central nervous system (31%), lungs and cardiovascular system (21%). Serological tests showed: positive antinuclear antibody in 90.6%, and positive anti double-stranded DNA antibody in 65%. The morbidity rate was 21% (n=7) due to complication and 12.5% (n=4) died. CONCLUSION: Clinical and serological results were comparable with the international studies. Nephritis was the primary cause of morbidity and mortality. Coexistence of SLE with SCA was also reported in other studies and may need further investigation with genetic studies.

A splice site mutation confirms the role of LPIN2 in Majeed syndrome.

Majeed syndrome is an autoinflammatory disorder consisting of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and neutrophilic dermatosis. To date, 2 unrelated families with Majeed syndrome have been reported. Mutations in LPIN2 have been found in both families. Here we report a third consanguineous family with Majeed syndrome with a novel mutation. The patient, a 3-year-old Arabic girl, had hepatosplenomegaly and anemia as a neonate. At age 15 months, she developed recurrent episodes of fever and multifocal osteomyelitis. In addition, bone marrow aspiration demonstrated significant dyserythropoiesis, suggesting Majeed syndrome. Coding sequences and splice sites of LPIN2 were sequenced in the patient and her mother. A homozygous single-basepair change was detected in the donor splice site of exon 17 (c.2327+1G>C) in the patient; her mother was heterozygous at this site. These data confirm the role of LPIN2 mutations in the etiology of Majeed syndrome.