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World J Crit Care Med. Mar 9, 2025; 14(1): 101835
Published online Mar 9, 2025. doi: 10.5492/wjccm.v14.i1.101835
Table 1 Disease phenotypes, specific conditions and potential clinical manifestations relevant to intensive care
Chronic disease phenotypes
Specific diseases
Key manifestations relevant to intensive care
Primary single organ chronic diseaseCystic fibrosisRespiratory failure, pneumonia, pancreatitis (acute/chronic), liver failure, and distal intestinal obstruction syndrome
HaemophiliaLife or limb threatening haemorrhage
Congenital heart diseaseHeart failure, post operative care (e.g., shunt upgrade), endocarditis, and single ventricle physiology
Insulin dependent diabetes mellitusDiabetic ketoacidosis and cardiovascular complications
Organ transplantationOrgan failure and opportunistic infection
Complex disabilityCerebral palsy with neurocognitive disability: Perinatal hypoxia, traumatic brain injury, severe infections of the CNS, and neuronal migration disorders (e.g., lissencephaly)Seizures, pneumonia, post operative monitoring respiratory support, chest wall deformity (scoliosis), abnormal bulbar tone, nutritional deficiency, intellectual disability, and polypharmacy
Rare conditionsMetabolic or mitochondrial conditions (e.g., urea cycle disorders and amino acidopathies)Hyperammonaemia, neurological problems, metabolic acidosis, organ dysfunction, seizures, intellectual disability, and need for blood purification therapies (e.g., renal replacement therapy)
Genetic abnormalities (e.g., Duchenne syndrome and Marfan syndrome)Neuromuscular weakness, progressive heart or respiratory failure, and airway difficulty
Chromosomal disorders (e.g., Down syndrome)Pneumonia, immunodeficiency, congenital heart disease, cervical spine instability, and intellectual disability
Technology dependenceTracheostomy with long term ventilation (e.g., cervical spine injury)Pneumonia, respiratory failure, and home ventilation
Long term gastric feeding tube, TPN dependence (e.g., short gut syndrome, bulbar palsy, and neurocognitive disability)Nutritional deficiency, line related sepsis, and device malfunction