Tesi etd-10152023-184235
Link copiato negli appunti
Tipo di tesi
Corso Ordinario Ciclo Unico 6 Anni
Autore
GASPARINI, SIMONE
URN
etd-10152023-184235
Titolo
Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol
Struttura
Cl. Sc. Sperimentali - Medicina
Corso di studi
SCIENZE MEDICHE - SCIENZE MEDICHE
Commissione
Tutor Prof. PASSINO, CLAUDIO
Relatore Prof. GUERRINI, RENZO
Relatore Prof.ssa BALESTRINI, SIMONA
Membro Prof. ANGELONI, DEBORA
Membro Prof. LIONETTI, VINCENZO
Membro Prof. EMDIN, MICHELE
Membro Prof. RECCHIA, FABIO ANASTASIO
Relatore Prof. GUERRINI, RENZO
Relatore Prof.ssa BALESTRINI, SIMONA
Membro Prof. ANGELONI, DEBORA
Membro Prof. LIONETTI, VINCENZO
Membro Prof. EMDIN, MICHELE
Membro Prof. RECCHIA, FABIO ANASTASIO
Parole chiave
- Nessuna parola chiave trovata
Data inizio appello
18/12/2023;
Disponibilità
parziale
Riassunto analitico
Purpose: COL4A1 and COL4A2 variants are associated with debilitating multiorgan manifestations. However, a comprehensive description of the whole spectrum of diseases related to COL4A1/2 variants is lacking, thus hindering the management of these patients.
Methods: We first performed a systematic review of the current evidence on COL4A1/2 pathogenic variants. We then developed a questionnaire to investigate the full range of COL4A1/2 disease manifestations. We administered this questionnaire to a cohort of 43 individuals from 23 distinct families carrying COL4A1/2 variants. Lastly, we performed ophthalmological and cardiological examinations in asymptomatic individuals from our cohort.
Results: Common described findings are stroke (30%), history of seizures or epilepsy (28%), intellectual or developmental delay (24%), motor impairment (23%), porencephaly (19%), congenital cataracts (17%), hematuria (9%) retinal arterial tortuosity (8%), and elevated CK levels (8%). From our questionnaire, common findings were epilepsy (42%), stroke (21%), and motor impairment (30%). The ophthalmological investigations detected retinal vascular tortuosity (36%), dysgenesis of the anterior segment (14%), and cataract (14%). The cardiological investigations showed one case of mild ascending aorta ectasia and one case of atrial fibrillation with frequent premature ventricular contractions.
Conclusion: Based on the questionnaire results, the investigations carried out, and the literature review, we propose a protocol for clinical management and prevention of complications with periodic multiorgan evaluation. This comprehensive approach aims at early detecting COL4A1/2 complications, paving the way for improved patient management strategies and future research endeavours, ultimately improving patients’ prognosis and quality of life.
Methods: We first performed a systematic review of the current evidence on COL4A1/2 pathogenic variants. We then developed a questionnaire to investigate the full range of COL4A1/2 disease manifestations. We administered this questionnaire to a cohort of 43 individuals from 23 distinct families carrying COL4A1/2 variants. Lastly, we performed ophthalmological and cardiological examinations in asymptomatic individuals from our cohort.
Results: Common described findings are stroke (30%), history of seizures or epilepsy (28%), intellectual or developmental delay (24%), motor impairment (23%), porencephaly (19%), congenital cataracts (17%), hematuria (9%) retinal arterial tortuosity (8%), and elevated CK levels (8%). From our questionnaire, common findings were epilepsy (42%), stroke (21%), and motor impairment (30%). The ophthalmological investigations detected retinal vascular tortuosity (36%), dysgenesis of the anterior segment (14%), and cataract (14%). The cardiological investigations showed one case of mild ascending aorta ectasia and one case of atrial fibrillation with frequent premature ventricular contractions.
Conclusion: Based on the questionnaire results, the investigations carried out, and the literature review, we propose a protocol for clinical management and prevention of complications with periodic multiorgan evaluation. This comprehensive approach aims at early detecting COL4A1/2 complications, paving the way for improved patient management strategies and future research endeavours, ultimately improving patients’ prognosis and quality of life.
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