Clouds over IMD? Perspectives for inherited metabolic diseases in adults from a retrospective cohort study in two Swiss adult metabolic clinics.
Karim GarianiMarina NascimentoAndrea Superti-FurgaChristel TranPublished in: Orphanet journal of rare diseases (2020)
This retrospective study reveals significant features of adult IMD cohort. The disorders are heterogeneous, and there is no one-size-fits-all approach - treatment must be tailored to fit each specific disorder in each individual patient. Even patients who are followed at the dedicated clinic are not protected from metabolic decompensations and/or chronic organ-specific complications. While it is commonly assumed that patients with IMD are more stable once they become adults, our data show that the diseases continue to exact a lifelong toll. A coordinated monitoring of target organs by a multidisciplinary team is needed. To ensure that the success in diagnosis and treatment of individuals with IMD is sustained, there is a clear requirement for adequately staffed adult IMD clinics.
Keyphrases
- primary care
- end stage renal disease
- newly diagnosed
- chronic kidney disease
- childhood cancer
- prognostic factors
- palliative care
- peritoneal dialysis
- case report
- electronic health record
- risk factors
- density functional theory
- patient reported outcomes
- machine learning
- big data
- deep learning
- young adults
- drug induced
- replacement therapy
- emergency medical