Article ; Online: Uveitis, glaucoma, and cataract with mevalonate kinase deficiency.
2022 Volume 26, Issue 2, Page(s) 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 term(s) | 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 |
| Chemical Substances | Adalimumab (FYS6T7F842) |
| Language | English |
| Publishing date | 2022-02-11 |
| Publishing country | United States |
| Document type | 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 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
More links
Kategorien
In stock of ZB MED Cologne/Königswinter
| Zs.A 5188: Show issues | Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG) |
Order via subito
This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.