Case 01 (2023): Neonatal lupus syndrome manifested by metabolic disease: a case report / 中华围产医学杂志
Chinese Journal of Perinatal Medicine
; (12): 950-954, 2023.
Article
en Zh
| WPRIM
| ID: wpr-1029341
Biblioteca responsable:
WPRO
ABSTRACT
This paper reports a case of neonatal lupus syndrome manifested by metabolic disease. A male neonate was admitted to the Children's Hospital of Soochow University due to poor response and vomiting for 1 day. Based on the clinical symptoms, including the patterned skin and a full anterior fontanelle, and a result of leukocytosis, neonatal sepsis was considered. Lysinuric protein intolerance was not excluded from the genetic metabolic disorders screening. The patient was positive for lupus-related autoantibodies and antinuclear antibodies, which were also found in his mother and elder sister. He had no functional variant of the SCL7A7 gene, a gene related to lysinuric protein intolerance, thereby the diagnosis of neonatal lupus syndrome manifested by metabolic disorders was confirmed. After treatment with methylprednisolone, the patient recovered well with no specific change in blood genetic metabolism at re-examination. Monthly follow-up after discharge found decreased antibody titers.
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Base de datos:
WPRIM
Idioma:
Zh
Revista:
Chinese Journal of Perinatal Medicine
Año:
2023
Tipo del documento:
Article