Clinical Conditions Flashcards
What is scurvy?
- Scurvy is a condition which arises due to insufficient Vitamin C (ascorbic acid) intake
- It presents with weakness, fatigue, and sore arms and legs
What are malabsorption conditions?
- Malapsorption conditions are caused by the failure to digest and/or absorb ingest nutrients e.g. Coeliac disease and Crohn’s disease
- Under-nutrition may result from eating disorders like anorexia and bulimia nervosa or from reduced availability of food such as in developing countries
What is mitochondrial disease?
Mitochondrial disease is an inherited chronic illness involving a group of disorders caused by dysfunctional mitochondria
What is Secondary Lactase Deficiency?
- Secondary lactase deficiency is a condition occurring due to injury to small intestine
- It occurs in both infants and adults and is generally reversible
What is galactosaemia?
Galactosaemia is a clinical condition wherein one cannot use galactose obtained from the diet because of a lack of the kinase or transferase enzyme
What is classic haemophilia?
- Classic haemophilia, is a genetic disorder caused by missing or defective factor VIII which prevents the stimulated activity of factor IXa, a serine protease
- Treatment with recombinant factor VIII
What is Down’s Syndrome?
- Down’s Syndrome is a genetic condition arising due to trisomy 21 (third copy of chromosome 21)
- It manifests with characteristic facial features, intellectual disability, heart defects and increased prevalence of leukaemia
What is Sickle Cell Anaemia?
Sickle cell anaemia is a haemoglobinopathy which arises due to a single base mutation in the β-chain of haemoglobin (Glu ⇒ Val) causing the blood cells to become rigid and sickle (HbS protein)
What is Congenital lactase deficiency?
- Congenital lactase deficiency is an extremely rare condition caused by an autosomal recessive defect in lactase gene
- The infant cannot digest breast milk
What is obesity?
- Obesity is a chronic condition characterised by excess body fat and is most often defined on the basis of Body Mass Index (BMI)
- The body weight in most adults represents the balance between energy intake and energy expenditure but other factors also contribute to weight gain e.g. genes, drug therapy, endocrine disorders
What are developmental disorders?
Developmental disorders are a group of psychiatric conditions originating in childhood that involve serious mental and physical impairment in different areas
What is marasmus?
- Marasmus is a type of protein-energy malnutrition most commonly seen in children < 5
- Patient is emaciated, muscle wasting, loss of body fat, thin & dry hair, diarrhoea (no oedema)
What is Huntington’s Disease?
- Huntington’s disease is an inherited neurodegenerative disease, affecting mostly basal ganglia and leading to the degeneration of voluntary motor functions, procedural learning, routines, cognition and emotions
- Symptoms: seizures, abnormal gait, personality change, dementia
What is kwashiorkor?
- Kwashiorkor occurs typically in a young child displaced from breastfeeding and fed with a high carbohydrate, very low protein diet
- Patient is apathetic, lethargic, anorexic, anaemic, has generalised oedema and low serum albumin
What is Werner Syndrome?
Werner syndrome is a clinical condition involving mutations in the WRN gene leading to DNA replication defects, DNA damage and ultimately, cell growth defects
