Monogenic Lupus with IgA Nephropathy Caused by Spondyloenchondrodysplasia with Immune Dysregulation

نویسندگان

چکیده

Monogenic disorders causing systemic lupus erythematosus represent a small subset of cases. Type-1 interferonopathies, like spondyloenchondrodysplasia with immune dysregulation constitute an important functional category monogenic lupus. Apart from autoimmune disorders, neurological and skeletal abnormalities are additional manifestations observed in this disorder. A young female presented seizures due to acute hemorrhagic stroke secondary malignant hypertension. On evaluating the cause for hypertension, there was evidence glomerulonephritis multiple autoantibodies positivity including dsDNA. diagnosis made based on clinical laboratory findings. Kidney biopsy revealed mesangial proliferative predominant IgA deposits favouring nephropathy. Additional features form short stature vertebral bilateral basal ganglia calcification led evaluation interferonopathies. Sanger sequencing identified novel compound heterozygous variants c.550C>T (p.Q184*) exon 3 c.740T>G (p.L247R) 4 ACP5 gene. Parents were found be carriers Management included antihypertensive agents symptomatic therapy. follow-up, complete resolution normalization blood pressure. This case report documents classic phenotype comprising autoimmune, skeletal, variant Indian patient. also highlights rare coexistence nephropathy

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ژورنال

عنوان ژورنال: Indian Journal of Pediatrics

سال: 2021

ISSN: ['0019-5456', '0973-7693']

DOI: https://doi.org/10.1007/s12098-020-03636-x