Syndromes Flashcards
What is Conn’s syndrome?
Excess production of aldosterone (primary hyperaldosteronism)
Conn’s syndrome is a potentially curable curable cause of secondary?
Hypertension
What is Cushing’s syndrome?
Collection of signs and symptoms due to prolonged exposure to cortisol
What are the features of cushing’s syndrome?
Hypertension Abdominal obesity reddish stretch marks Round red face Fat lump between shoulders Weak muscles Weak bones Acne Fragile skin (heals poorly) Women may have more hair and irregular menstruation
Cushing’s syndrome is caused by?
Tumour or steroid treatment
Cushing’s Disease is caused by?
Pituitary adenoma
What is Marfan’s Syndrome?
Genetic disorder of connective tissue
What are the features of Marfan’s syndrome?
Tend to be tall, thin, long arms, finger and toes
Flexible joints and scoliosis
(may indulge in marihuana - hint hint)
What is carcinoid heart disease?
Carcinoid tumours
Carcinoid tumours are neoplasia of?
Neuroendocrine cells (release hormones)
Carcinoid tumours are seen in _____ common GI tract and lungs
mucosa
What is carcinoid syndrome?
Mets to the liver Release of THIAA, serotonin, histamine, bradykinin Flushing of the skin Nausea, vomiting, diarrhoea Right-sided valve disease Tricuspid and pulmonary insufficiency
What is sinus sick syndrome?
Sinus node dysfunction causing bradycardia, sion-atrial block or SVT with alternating bradycardia/asystole
How do you treat sinus sick syndrome?
Pace if asymptomatic
What is amyloidosis?
Abnormal deposition of any protein
Tendency to form beta-pleated sheets?
Amyloidosis AA is related to chronic disease like?
Rheumatoid
Amyloidosis AL form ___ chains causing?
light
abnormal immunoglobulin
Haemodialysis associated Amyloidosis causes formation of?
Beta-1-microglobulin
What are the different forms of Amyloidosis?
AA AL Haemodialysis associated Familial forms Diabetes Alzheimer's Senile cardiac amyloidosis
Senile cardiac amyloidosis affects? which carries ?
Transthyretin
Thyroid hormone
Waxy pink material, stains +ve for “congo red” showing apple green birefringence is a positive test for?
Senile cardiac amyloidosis
What is Carney’s syndrome?
Multiple myxomas
What are features of Carney’s syndrome?
Spotty skin pigmentation and lentigines mainly in the face
Neurofibromas, sertoli cell tumours of the testicle
Occasionally pancreatic and thyroid tumours
Carney’s syndrome is an autosomal _____ condition caused by which gene?
dominant
PRKAR1A gene
