Monogenic lupus due to DNASE1L3 deficiency in a pediatric patient with urticarial rash,hypocomplementemia, pulmonary hemorrhage,and immune-complex glomerulonephritis |
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Authors: | Rabia Miray Kisla Ekinci Sibel Balci Dilek Ozcan Bahriye Atmis Atil Bisgin |
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Institution: | 1. Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark;2. Centre for Rare Diseases, Pediatric and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark;3. Centre for Rare Diseases, Pediatric and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark;4. Copenhagen Neuromuscular Center, Department of Neurology, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark |
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Abstract: | Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease and usually involves the skin, musculoskeletal system, and kidneys. More than 30 genes have been to monogenic lupus, so far. Monogenic lupus is often characterized by an early-onset, similar family history, and syndromic appearance. Herein we present a pediatric patient with DNASE1L3 deficiency, suffering from both urticarial skin lesions, recurrent hemoptysis, and renal involvement, eventually diagnosed as this rare monogenic lupus.The patient suffered from recurrent urticarial rash and hemoptysis since the age of 15 months of age. He had microscopic hematuria, mild proteinuria, hypocomplementemia, and positive antinuclear antibody, anti-dsDNA, and antineutrophil cytoplasmic antibodies. Renal biopsy yielded immunocomplex glomerulonephritis. Due to early-onset, similar sibling history and consanguineous parents, we suspected monogenic lupus and performed whole-exome sequencing, which further revealed a homozygous T97Ifs*2 mutation (NM_004944.4: c.290_291delCA/p.Thr97Ilefs*2) in DNASE1L3 gene.In conclusion, DNASE1L3 deficiency should be thought when juvenile SLE occurs with early disease-onset, pulmonary hemorrhage, glomerulonephritis, and recurrent urticarial rash along with ANCA positivity. |
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Keywords: | DNASE1L3 deficiency Glomerulonephritis Pulmonary hemorrhage Systemic lupus erythematosus Urticaria |
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