Artikel ; Online: Uveitis, glaucoma, and cataract with mevalonate kinase deficiency.
2022 Band 26, Heft 2, Seite(n) 93–95
Abstract: We report 7 years of follow-up data on ocular findings in a 2-month-old boy who presented with early-onset bilateral granulomatous panuveitis with subsequent development of secondary glaucoma and total cataract, along with multisystem involvement. He was ...
| Abstract | We report 7 years of follow-up data on ocular findings in a 2-month-old boy who presented with early-onset bilateral granulomatous panuveitis with subsequent development of secondary glaucoma and total cataract, along with multisystem involvement. He was diagnosed with mevalonate kinase deficiency (MKD), with a homozygous missense variant in exon-6 of the mevalonate kinase (MVK) gene on chromosome-12 that resulted in the substitution of aspartic acid for asparagine at codon 205 (p.Asn205Asp). Despite being managed with topical/systemic steroids and immunosuppression therapy with methotrexate and a short course of adalimumab, the patient continued to develop recurrent episodes of uveitis along with multisystem manifestations. The occurrence of early-onset uveitis is rare, as is the diagnosis of MKD. |
|---|---|
| Mesh-Begriff(e) | Adalimumab ; Cataract/complications ; Cataract/etiology ; Glaucoma/complications ; Humans ; Infant ; Male ; Mevalonate Kinase Deficiency/complications ; Mevalonate Kinase Deficiency/diagnosis ; Mevalonate Kinase Deficiency/drug therapy ; Uveitis/diagnosis ; Uveitis/drug therapy ; Uveitis/etiology |
| Chemische Substanzen | Adalimumab (FYS6T7F842) |
| Sprache | Englisch |
| Erscheinungsdatum | 2022-02-11 |
| Erscheinungsland | United States |
| Dokumenttyp | Case Reports ; Journal Article |
| ZDB-ID | 1412476-2 |
| ISSN | 1528-3933 ; 1091-8531 |
| ISSN (online) | 1528-3933 |
| ISSN | 1091-8531 |
| DOI | 10.1016/j.jaapos.2021.11.009 |
| Datenquelle | MEDical Literature Analysis and Retrieval System OnLINE |
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