What three nonrenal pathologies are associated with autosomal-dominant polycystic kidney disease?
Polycystic liver disease, berry aneurysm, and mitral valve prolapse
Ninety percent of cases of adult polycystic kidney disease are associated with a mutation in what gene?
APKD1, which is located on chromosome 16 (remember: 16 letters in polycystic kidney)
Adult polycystic kidney disease is inherited in an autosomal-_____ (dominant/recessive) pattern, whereas infantile polycystic kidney disease is associated with an autosomal-_____ (dominant/recessive) pattern.
What is the mode of inheritance of familial adenomatous polyposis?
What is the prognosis for a patient with familial adenomatous polyposis?
Adenomatous polyps will progress to colon cancer unless they are resected
The defect that leads to familial adenomatous polyposis is found on chromosome ____.
5 (remember: 5 letters in polyp)
The defect that leads to familial adenomatous polyposis is found in the ____ gene.
APC (remember, it stands for Adenomatosis Polyposis Coli)
What is the mode of inheritance of familial hypercholesterolemia?
Familial hypercholesterolemia is the result of a defect in what type of receptor?
Low-density lipoprotein receptor
In patients with familial hypercholesterolemia, heterozygotes can be expected to have a cholesterol level around ____ mg/dL, and homozygotes can be expected to have a cholesterol level around ____ mg/dL.
A middle-aged woman had a myocardial infarction 20 years ago, and has tendon xanthomas on her Achilles tendon. What is the most likely diagnosis?
What is another name for Osler-Weber-Rendu syndrome?
Hereditary hemorrhagic telangiectasia
Why is recurrent epistaxis a common finding in Osler-Weber-Rendu syndrome?
Malformed blood vessels in the nose can break and cause frequent nosebleeds
A patient has multiple telangiectasias, skin discolorations, and notes recurrent epistaxis; what other physical finding might be expected?
This constellation of symptoms is typical of hereditary hemorrhagic telangiectasia; can also see arteriovenous malformations
What is the mode of inheritance of hereditary spherocytosis?
A patient has hemolytic anemia, increased mean corpuscular hemoglobin concentration, and spheroid erythrocytes. What is the most likely diagnosis?
Why do patients with hereditary spherocytosis have elevated mean corpuscular hemoglobin concentration?
Red blood cells have less surface area and volume and therefore more concentrated hemoglobin
Describe the clinical manifestations of hereditary spherocytosis.
Symptoms associated with anemia such as fatigue, shortness of breath, pallor, and dark urine
In refractory cases, how can you cure hereditary spherocytosis?
A splenectomy is curative
What is the mode of inheritance of Huntington's disease?
A 50-year-old patient develops depression, progressive dementia, and choreiform movements. What is the most likely diagnosis?
Huntington's disease; symptoms usually begin between 20 and 50 years of age
You are performing an autopsy on a man who had Huntington's disease; what would you find on inspection of the brain?
Huntington's disease is associated with atrophy of the caudate
The defect that leads to Huntington's disease is found on chromosome ____.
4 (remember: Hunting 4 food)
What would a genetic analysis of a patient with Huntington's disease demonstrate on chromosome 4?
Trinucleotide repeats of (CAG)n in the Huntingtin gene
Which neurotransmitters are most affected by Huntington's disease?
Decreased levels of γ-aminobutyric acid and acetylcholine
What is the mode of inheritance of Marfan's syndrome?
Marfan's syndrome is the result of a mutation in the _____ gene.
What physical signs are associated with Marfan's syndrome?
Marfan's syndrome is associated with a tall habitus and long, tapering fingers and toes
True or False? Marfan's syndrome is associated with hyperflexible joints.
What pathology of the cardiovascular system is seen in Marfan's syndrome?
Cystic medial necrosis of the aorta, aortic incompetence, and dissecting aortic aneurysms