Tesi etd-10152023-184235
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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
Relatori
Tutor Prof. PASSINO, CLAUDIO
Relatore Prof. GUERRINI, RENZO
Relatore Prof.ssa BALESTRINI, SIMONA
Relatore Prof. GUERRINI, RENZO
Relatore Prof.ssa BALESTRINI, SIMONA
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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