Health-related quality of life in a systematically assessed cohort of children and adults with urea cycle disorders.
Mol Genet Metab
; 140(3): 107696, 2023 11.
Article
em En
| MEDLINE
| ID: mdl-37690181
ABSTRACT
PURPOSE:
Individuals with urea cycle disorders (UCDs) may develop recurrent hyperammonemia, episodic encephalopathy, and neurological sequelae which can impact Health-related Quality of Life (HRQoL). To date, there have been no systematic studies of HRQoL in people with UCDs.METHODS:
We reviewed HRQoL and clinical data for 190 children and 203 adults enrolled in a multicenter UCD natural history study. Physical and psychosocial HRQoL in people with UCDs were compared to HRQoL in healthy people and people with phenylketonuria (PKU) and diabetes mellitus. We assessed relationships between HRQoL, UCD diagnosis, and disease severity. Finally, we calculated sample sizes required to detect changes in these HRQoL measures.RESULTS:
Individuals with UCDs demonstrated worse physical and psychosocial HRQoL than their healthy peers and peers with PKU and diabetes. In children, HRQoL scores did not differ by diagnosis or severity. In adults, individuals with decreased severity had worse psychosocial HRQoL. Finally, we show that a large number of individuals would be required in clinical trials to detect differences in HRQoL in UCDs.CONCLUSION:
Individuals with UCDs have worse HRQoL compared to healthy individuals and those with PKU and diabetes. Future work should focus on the impact of liver transplantation and other clinical variables on HRQoL in UCDs.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fenilcetonúrias
/
Transplante de Fígado
/
Hiperamonemia
/
Diabetes Mellitus
/
Distúrbios Congênitos do Ciclo da Ureia
Tipo de estudo:
Clinical_trials
Aspecto:
Patient_preference
Limite:
Adult
/
Child
/
Humans
Idioma:
En
Revista:
Mol Genet Metab
Ano de publicação:
2023
Tipo de documento:
Article