Juvenile Onset Splenomegaly and Oculopathy Due to Germline Mutation in ALPK1
Autor: | Wei Wang, Qing Zhou, Xiaoyan Tang, Jun Wang, Linqing Zhong, Min Wei, Juan Xiao, Tiannan Zhang, Lijuan Gou, Lin Wang, Meiying Quan, Hongmei Song, Ruifang Sui |
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Rok vydání: | 2020 |
Předmět: |
0301 basic medicine
medicine.medical_specialty Visual acuity Adolescent medicine.medical_treatment Immunology Splenectomy 03 medical and health sciences 0302 clinical medicine Germline mutation Retinal Dystrophies Exome Sequencing Adalimumab medicine Edema Humans Immunology and Allergy Anhidrosis Child Exome sequencing Tumor Necrosis Factor-alpha business.industry NF-kappa B Eye Diseases Hereditary Optic Nerve Syndrome medicine.disease Dermatology Pedigree Up-Regulation 030104 developmental biology Migraine Mutation Splenomegaly Optic nerve Female medicine.symptom business Protein Kinases Signal Transduction 030215 immunology medicine.drug |
Zdroj: | Journal of Clinical Immunology. 40:350-358 |
ISSN: | 1573-2592 0271-9142 |
Popis: | ROSAH syndrome was recently identified as an autosomal dominant systemic disorder due to mutations in ALPK1. It was characterized by retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache. We collected and summarized the clinical data of two patients with juvenile onset splenomegaly and oculopathy. Whole exome sequencing (WES) was adapted for genetic analysis. Mutations in ALPK1 were confirmed by Sanger sequencing. Besides juvenile oculopathy and splenomegaly, both patients had intermittent fever and anhidrosis. Patient 2 also experienced recurrent upper respiratory infections in her infancy and developed dental and nail problems in childhood. Elevated TNF-α was their prominent laboratory features. Both patients were found to have a previously reported mutation, c.710C>T, p. T237M (NM_001102406) in ALPK1. Anti-TNF treatment of adalimumab was applied to patient 1, after which her optic disc edema in the left eye continued and the visual acuity deteriorated further. Patient 1 underwent elective splenectomy due to concern for spontaneous rupture of the spleen. Up to date, 18 patients of ROSAH syndrome have been reported. The clinical manifestations were relatively homogeneous, prominently presenting with juvenile onset oculopathy and splenomegaly. As it mainly involves ocular fundus, severe oculopathy deeply affects the quality of life and prognosis of ROSAH patients. Now little has been known about its treatment. As a newly recognized inherited systemic disorder, ROSAH syndrome needs to be paid more attention to, especially for those with juvenile onset splenomegaly and oculopathy. |
Databáze: | OpenAIRE |
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