PMID- 36685993
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20230202
IS  - 2514-1775 (Electronic)
IS  - 2514-1775 (Linking)
VI  - 7
IP  - 1
DP  - 2023
TI  - Spectrum of auto-inflammatory diseases in Morocco: a monocentric experience.
PG  - rkad001
LID - 10.1093/rap/rkad001 [doi]
LID - rkad001
AB  - OBJECTIVE: Auto-inflammatory diseases (AIDs) result from mutations in genes of 
      the innate immune system leading to periodic multisystemic inflammation. We aimed 
      to describe the clinical, biological and molecular features (when available) and 
      outcomes of Moroccan patients with AIDs. METHODS: Patient data were collected 
      retrospectively and analysed over a 13-year period. RESULTS: Among 30 patients, 
      60% had FMF, 16% mevalonate kinase deficiency (MKD) and 24% other AIDs. The mean 
      age at first consultation was 6.9 years, and the mean diagnostic delay was 
      3 years. Consanguinity was reported in 16 cases. IgA vasculitis was associated 
      with 33% of FMF patients, in whom the main clinical features were fever (88.8%), 
      abdominal pain (100%), arthralgias (88.8%) and arthritis (50%), and the most 
      frequent mutation was M694V (66%). All FMF patients were treated with colchicine. 
      Most MKD patients were confirmed by elevated urinary mevalonic acid levels, and 
      four of five MKD patients received targeted therapy. Chronic recurrent 
      osteomyelitis patients were confirmed by radiological and histological analysis. 
      Two cases of Marshall syndrome were diagnosed according to validated criteria. A 
      case of familial pustular psoriasis was diagnosed based on histological analysis 
      and a patient with Muckle-Wells syndrome by clinical features. The outcome was 
      favourable in 76%, partial in 13%, and three deaths were reported. CONCLUSION: 
      FMF and MKD are the most reported diseases. AIDs are probably underestimated 
      because they are unknown to clinicians. The aim of this work is to raise 
      awareness among paediatricians about AIDs and create a network for best practice.
CI  - (c) The Author(s) 2023. Published by Oxford University Press on behalf of the 
      British Society for Rheumatology.
FAU - Souali, Manal
AU  - Souali M
AUID- ORCID: 0000-0002-0247-546X
AD  - Laboratory of Clinical Immunology, Inflammation and Allergy (LICIA), Hassan II 
      University - Faculty of Medicine and Pharmacy of Casablanca, Morocco.
FAU - Sakhi, Asmaa
AU  - Sakhi A
AD  - Laboratory of Clinical Immunology, Inflammation and Allergy (LICIA), Hassan II 
      University - Faculty of Medicine and Pharmacy of Casablanca, Morocco.
AD  - Pediatric Rheumatology and Internal Medicine Unit, A. Harouchi Mother and Child 
      Hospital, CHU Ibn Rochd, Hassan II University - Faculty of Medicine and Pharmacy 
      of Casablanca, Morocco.
FAU - Benbrahim Ansari, Ghita
AU  - Benbrahim Ansari G
AD  - Laboratory of Clinical Immunology, Inflammation and Allergy (LICIA), Hassan II 
      University - Faculty of Medicine and Pharmacy of Casablanca, Morocco.
AD  - Pediatric Rheumatology and Internal Medicine Unit, A. Harouchi Mother and Child 
      Hospital, CHU Ibn Rochd, Hassan II University - Faculty of Medicine and Pharmacy 
      of Casablanca, Morocco.
FAU - Mikou, Nabiha
AU  - Mikou N
AD  - Laboratory of Clinical Immunology, Inflammation and Allergy (LICIA), Hassan II 
      University - Faculty of Medicine and Pharmacy of Casablanca, Morocco.
AD  - Pediatric Rheumatology and Internal Medicine Unit, A. Harouchi Mother and Child 
      Hospital, CHU Ibn Rochd, Hassan II University - Faculty of Medicine and Pharmacy 
      of Casablanca, Morocco.
FAU - Bousfiha, Ahmed Aziz
AU  - Bousfiha AA
AD  - Laboratory of Clinical Immunology, Inflammation and Allergy (LICIA), Hassan II 
      University - Faculty of Medicine and Pharmacy of Casablanca, Morocco.
AD  - Clinical Immunology Unit, A. Harouchi Mother and Child Hospital, CHU Ibn Rochd, 
      Hassan II University - Faculty of Medicine and Pharmacy of Casablanca, Morocco.
FAU - Bouayed, Kenza
AU  - Bouayed K
AD  - Laboratory of Clinical Immunology, Inflammation and Allergy (LICIA), Hassan II 
      University - Faculty of Medicine and Pharmacy of Casablanca, Morocco.
AD  - Pediatric Rheumatology and Internal Medicine Unit, A. Harouchi Mother and Child 
      Hospital, CHU Ibn Rochd, Hassan II University - Faculty of Medicine and Pharmacy 
      of Casablanca, Morocco.
LA  - eng
PT  - Journal Article
DEP - 20230109
PL  - England
TA  - Rheumatol Adv Pract
JT  - Rheumatology advances in practice
JID - 101736676
PMC - PMC9853318
OTO - NOTNLM
OT  - FMF
OT  - auto-inflammatory diseases
OT  - children
OT  - genetics
OT  - mevalonate kinase deficiency
EDAT- 2023/01/24 06:00
MHDA- 2023/01/24 06:01
PMCR- 2023/01/09
CRDT- 2023/01/23 04:43
PHST- 2022/07/20 00:00 [received]
PHST- 2022/11/10 00:00 [accepted]
PHST- 2023/01/23 04:43 [entrez]
PHST- 2023/01/24 06:00 [pubmed]
PHST- 2023/01/24 06:01 [medline]
PHST- 2023/01/09 00:00 [pmc-release]
AID - rkad001 [pii]
AID - 10.1093/rap/rkad001 [doi]
PST - epublish
SO  - Rheumatol Adv Pract. 2023 Jan 9;7(1):rkad001. doi: 10.1093/rap/rkad001. 
      eCollection 2023.