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Citrin deficiency has four primary phenotypes that are age dependent. These include neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) that affects infants, the adaptation or silent period, failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD) and adolescent and adult citrin deficiency (AACD) (formerly termed CTLN2), which represents the most severe form of ...
Clinical features depend on the molecular pathology of the particular CDG subtype. Common manifestations include ataxia; seizures; retinopathy; liver disease; coagulopathies; failure to thrive (FTT); dysmorphic features (e.g., inverted nipples and subcutaneous fat pads); pericardial effusion, skeletal abnormalities, and hypotonia.
The term childhood disease refers to disease that is contracted or becomes symptomatic before the age of 18 or 21 years old. Many of these diseases can also be contracted by adults. Some childhood diseases include:
Chronic diseases in children may have a genetic (hereditary) cause, an environmental (acquired) cause or a combination of both. Early identification and treatment of the disease is key to successful health outcomes. Chronic diseases can affect multiple organ systems and can, therefore, manifest in different ways.
25% (1 in 4) of children will have the disease; 50% (2 in 4) of children will be carriers, but unaffected; 25% (1 in 4) children will be free of MLD – unaffected child that is not a carrier; If one parent is affected and one is free of MLD: 0% (0) children will have the disorder – only one parent is affected, other parent always gives ...
Although female carriers can have a mild form of G6PD deficiency (dependent on the degree of inactivation of the unaffected X chromosome – see Skewed X-inactivation), homozygous females have been described; in these females, there is co-incidence of a rare immune disorder termed chronic granulomatous disease (CGD). [citation needed]
A rapid risk assessment conducted by the European Centre for Disease Prevention and Control (ECDC) concluded that the overall risk to children in the European Union (EU), European Economic Area (EEA) and the UK "is considered 'low', based on a 'very low' probability of [the disease] in children and a 'high' impact of such disease." [3]
Aggressive treatment of sinus disease beginning at an early age is believed to slow long-term sinus damage (although this has not yet been adequately documented). Aggressive measures to enhance clearance of mucus, prevent respiratory infections, and treat bacterial superinfections have been observed to slow lung-disease progression.