title: Three cases of spondyloenchondrodysplasia (SPENCD) with systemic lupus erythematosus: a case series and review of the literature.
abstract: Spondyloenchondrodysplasia (SPENCD) is a rare autosomal recessive skeletal dysplasia caused by recessive mutations in the ACP5 gene, and it is characterized by the persistence of chondroid tissue islands within the bone. The clinical spectrum of SPENCD includes neurological involvement and immune dysfunction, such as systemic lupus erythematosus (SLE). To date, there are only 12 reported cases of SPENCD associated with SLE in the literature; however, detailed clinical follow-up data is absent for this comorbidity. This report presents clinical and laboratory data of three patients diagnosed with SPENCD-associated SLE. All three patients had short stature, arthralgia/arthritis, lupus nephritis, hypocomplementemia, and positive autoantibodies, including anti-nuclear and anti-dsDNA antibodies. Two patients exhibited class IV and one patient exhibited class V lupus nephritis. The early recognition of SPENCD is imperative, and this condition should be considered in patients with SLE, particularly in individuals with short stature and skeletal abnormalities. The cases presented here demonstrate that timely diagnosis and follow-up are key factors for the successful management of these conditions.
authors: Department of Pediatrics, Division of Rheumatology, Hacettepe University Faculty of Medicine, Ankara, Turkey yeldabilginer@yahoo.com.
authors: Y
authors: Y
authors: Bilginer
authors: Department of Pediatrics, Division of Nephrology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
authors: A
authors: A
authors: Düzova
authors: Department of Pediatrics, Division of Nephrology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
authors: R
authors: R
authors: Topaloğlu
authors: Department of Pediatrics, Division of Rheumatology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
authors: E D
authors: ED
authors: Batu
authors: Department of Pediatrics, Division of Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
authors: K
authors: K
authors: Boduroğlu
authors: Department of Pediatrics, Division of Pathology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
authors: Ş
authors: Ş
authors: Güçer
authors: Department of Pediatrics, Division of Nephrology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
authors: I
authors: I
authors: Bodur
authors: Department of Pediatrics, Pediatric Genetic Unit, Acıbadem University School of Medicine, İstanbul, Turkey.
authors: Y
authors: Y
authors: Alanay
mesh_terms: D000293:Adolescent; D000974:Antibodies, Antinuclear / Q000097:blood; D001327:Autoimmune Diseases / Q000150:complications* / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000150:complications*; D008181:Lupus Nephritis / Q000150:complications; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D010009:Osteochondrodysplasias / Q000150:complications* / Q000235:genetics*; D000071681:Tartrate-Resistant Acid Phosphatase / Q000235:genetics*
chemical_list: D000974:Antibodies, Antinuclear; C000605510:ACP5 protein, human; D000071681:Tartrate-Resistant Acid Phosphatase
keywords: ACP5 gene; lupus nephritis; spondyloenchondrodysplasia; systemic lupus erythematosus