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30 Cards in this Set

  • Front
  • Back
What genetic alteration(s) is/are responsible for the vast majority of HFE-associated hemochromatosis?
A. C282Y
B. H63D
C. S65C
D. A & B
E. A, B, C
D. A & B.
While the point mutation C282Y accounts for the majority of cases due to a single mutation, those with the single mutation and compound heterozygotes of C282Y and
H63D account for by far most of the cases.
QCCP2, Hereditary hemochromatosis.
Mutations in which of the following genes is responsible for Wilson disease?
A. ceruloplasmin
B. HFE
C. ATP7B
D. major cuprotransferrin
E. a regulated chloride channel
C. ATP7B.
While the typical screening test for Wilson disease is a decreased serum ceruloplasmin, the actual gene mutated is the copper transporter, ATP7B.
QCCP2, Wilson disease (hepatolenticular degeneration).
All of the following are common presenting symptoms of Wilson disease, except:
A. diabetes
B. liver disease
C. neuropsychiatric disease
D. hemolysis
E. decreased serum ceruloplasmin
A. diabetes.
Diabetes is not commonly associated with Wilson disease as it is with hemochromatosis. Liver disease can manifest as hepatitis and progress to fibrosis/cirrhosis. The
Kayser-Fleischer iris pigmentation rings often accompany neuropsychiatric symptoms. In addition, there is often a nonimmune hemolytic anemia.
QCCP2, Wilson disease.
Which of the following genotypes of the SERPIN1A gene is most commonly associated with alpha-1-antitrypsin deficiency?
A. PiMM
B. PiMZ
C. PiZZ
D. PiMS
E. PiSZ
C. PiZZ.
There are nearly one hundred alleles of the Pi gene. Of them, homozygosity for the Z allele is most commonly associated with clinical alpha-1-antitrypsin deficiency.
The only other allele associated with disease is the S allele, especially when seen as a SZ heterozygote.
QCCP2, Alpha-1-antitrypsin (AAT) deficiency.
Which two organ systems are most commonly affected by alpha-1-antitrypsin (pick 2)?
A. neural
B. renal
C. pulmonary
D. hepatic
E. musculoskeletal
C. pulmonary.
D. hepatic.
Pan-acinar emphysema with a predilection for the lung bases is the most common pulmonary presentation. In the liver, there is typically neonatal hepatitis that can
develop into cirrhosis and hepatocellular carcinoma.
QCCP2, Alpha-1-antitrypsin (AAT) deficiency.
What is the typical serum protein electrophoresis (SPEP) pattern appearance of patients with alpha-1-antitrypsin disease?
A. decreased alpha 1 region
B. decreased alpha 2 region
C. beta-gamma bridging
D. decreased gamma region
E. sharp peak in the gamma region
A. decreased alpha 1 region.
Honestly. The name of the disease practically gives it away - alpha-1-antitrypsin deficiency. Choice B could refer to a number of things, such as decreased haptoglobin
(intravascular hemolysis) or decreased ceruloplasmin (Wilson disease). C describes a common finding in chronic inflammation. D describes agammaglobulinemia and E
describes a potential monoclonal gammopathy.
QCCP2, Alpha-1-antitrypsin (AAT) deficiency.
Which of the following presentations is most compatible with Alagille syndrome?
A. normal number of bile ducts at birth
B. noninflammatory paucity of interlobular bile ducts
C. triangular facies
D. A & B
E. A, B, C
E. A, B, C.
Patients with Alagille syndrome usually have a triangular-shaped face, butterfly or non-fused vertebrae, cardiac defects, and the characteristic disappearing bile ducts
where there is a normal number at birth which progressively diminishes, resulting in an increased portal tracts to bile duct ratio.
QCCP2, Alagille syndrome.
Mutations of which gene are most commonly associated with Alagille syndrome?
A. ALA1
B. JAG1
C. NOTCH1
D. NOTCH2
E. NOTCH3
B. JAG1.
Almost all cases of Alagille syndrome are associated with mutations of JAG1. NOTCH2 mutations account for a small proportion of cases (JAG1 encodes the NOTCH
ligand). NOTCH1 mutations are found in some cases of T-cell acute lymphocytic leukemia, while mutations of NOTCH3 are associated with CADASIL (cerebral autosomal
dominant arteriopathy with subcortical infarctions and leukoencephalopathy).
QCCP2, Alagille syndrome.
Which type of Hirschprung disease is more common in males than in females?
A. short segment aganglionosis
B. long segment aganglionosis
C. total colonic aganglionosis
D. all of the above are more common in males than females
E. all types of Hirschprung disease are more common in females than males
A. short segment agangliosis.
Long segment and total colonic agangliosis have an equal frequency in males and females. Short segment, however, is four times more commonly seen in males than
in females.
QCCP2, Hirschprung disease.
Which of the following syndromes is NOT associated with Hirschprung disease?
A. trisomy 21
B. MEN2A
C. NF1
D. Smith-Lemli-Opitz syndrome
E. all of the above are associated with Hirschprung disease
E. all of the above are associated with Hirschprung disease.
Hirschprung disease is associated with a number of genes and syndromes, including Waardenburg syndrome, Haddad syndrome, and Riley-Day syndrome, in addition to
the syndromes mentioned as choices in the question.
QCCP2, Hirschprung disease.
Which enzyme is most commonly deficient in congenital adrenal hyperplasia?
A. 11-hydroxylase
B. 17-hydroxylase
C. 21-hydroxylase
D. 20,22-hydroxylase
E. 3-hydroxysteroid-dehydrogenase
C. 21-hydroxylase.
While deficiencies of all the enzymes mentioned are associated with congenital adrenal hyperplasia, the most common by far (~90% of cases) is 21-hydroxylase
deficiency. As a result of the enzyme deficiency, a precursor, 17-hydroxyprogesterone (17-OHP), accumulates. Measurement of 17-OHP in dried blood spots is the
preferred screening tool.
QCCP2, Congenital adrenal hyperplasia
What is the gene and chromosomal location associated with androgen-insensitivity syndrome?
A. estrogen receptor, X chromosome
B. estrogen receptor, Y chromosome
C. androgen receptor, X chromosome
D. androgen receptor, Y chromosome
E. none of the above
C. androgen receptor, X chromosome.
The presentation of a genotypic male with external female genitalia suggests androgen insensitivity, an X-linked recessive condition (makes sense, doesn't it?). There
are a variety of androgen insensitivity phenotypes, ranging from complete insensitivity with external female genitalia and a 46, XY karyotype to infertility in an adult
male. The defect is due to the inability of the androgen receptor to respond to testosterone.
QCCP2, Androgen insensitivity syndrome (testicular feminization).
Alport syndrome and thin basement membrane disease are inherited nephritic syndromes due to deficiencies in which of the following:
A. nephrin
B. collagen, type II
C. collagen, type IV
D. D neurofilaments
E. tubulin
C. collagen, type IV.
Alport syndrome most commonly is inherited as an X-linked recessive disease and, as such, primarily affects males with sensorineural hearing loss, glomerulonephritis,
and ocular lesions. Three genes have been identified as being involved with this family of diseases. One, COL4A5, encodes the alpha 5 chain of type IV collagen and is
the cause of Alport syndrome.
QCCP2, Inherited nephritic syndromes (collagen IV-related nephropathies).
Which of the following genes is mutated in autosomal recessive polycystic kidney disease?
A. NPHP1
B. PKD1
C. PKD2
D. PKHD1
E. PKHD2
D. PKHD1.
Mutations in the NPHP1 gene are associated with juvenile-onset nephronophthsis. PKD1 and PKD2 mutations are seen in autosomal dominant polycystic kidney disease.
PKHD1, or polycystic kidney and hepatic disease gene 1, is located on chromosome 6p12 and encodes a protein of uncertain function, polycystin.
QCCP2, Inherited polycystic kidney diseases.
Which of the following genes is associated with cystic renal dysplasia?
A. MCDK1
B. NPHP1
C. NPHP2
D. PKD1
E. none of the above
E. none of the above.
Actually, cystic renal dysplasia is non-Mendelian and sporadic. It may be reactive in response to ureteral obstruction - similar to the reactive condition, nephrogenic
adenoma.
QCCP2, Cystic renal dysplasia
Which enzyme is most commonly deficient in congenital adrenal hyperplasia?
A. 11-hydroxylase
B. 17-hydroxylase
C. 21-hydroxylase
D. 20,22-hydroxylase
E. 3-hydroxysteroid-dehydrogenase
C. 21-hydroxylase.
While deficiencies of all the enzymes mentioned are associated with congenital adrenal hyperplasia, the most common by far (~90% of cases) is 21-hydroxylase
deficiency. As a result of the enzyme deficiency, a precursor, 17-hydroxyprogesterone (17-OHP), accumulates. Measurement of 17-OHP in dried blood spots is the
preferred screening tool.
QCCP2, Congenital adrenal hyperplasia
What is the primary difference phenotypically between juvenile and adult-onset nephronophthisis?
A. extrarenal anomalies
B. the presence of cartilage
C. the size of the cysts
D. sensorineural hearing loss
E. tuberous sclerosis
A. extrarenal anomalies.
Juvenile-onset nephronophthsis is an autosomal recessive mutation in NPHP1 and is associated with cortical cysts with occasional extrarenal manifestations, such as
hepatic fibrosis and retinal degeneration. The adult forms are associated with mutations in different genes, NPHP1 and NPHP2. While the renal symptoms of adult-onset
nephronophthsis are the same as the juvenile form, there is generally an absence of extrarenal disease.
QCCP2, Nephronophthsis.
What is the most common presentation of autosomal dominant polycystic kidney disease?
A. renal stones
B. hypertension
C. liver cysts
D. intracranial Berry aneurysms
E. mitral valve prolapse
B. hypertension.
While all of the choices are associated with ADPKD, hypertension is seen in almost all cases and is often the presenting symptom. Of the remaining choices, liver cysts
are seen in almost 3/4 of cases. Renal stones, Berry aneurysms, and mitral valve prolapse are seen in 20-25% of patients.
QCCP2, Autosomal dominant polycystic kidney disease (ADPKD).
What is the gene and chromosomal location associated with androgen-insensitivity syndrome?
A. estrogen receptor, X chromosome
B. estrogen receptor, Y chromosome
C. androgen receptor, X chromosome
D. androgen receptor, Y chromosome
E. none of the above
C. androgen receptor, X chromosome.
The presentation of a genotypic male with external female genitalia suggests androgen insensitivity, an X-linked recessive condition (makes sense, doesn't it?). There
are a variety of androgen insensitivity phenotypes, ranging from complete insensitivity with external female genitalia and a 46, XY karyotype to infertility in an adult
male. The defect is due to the inability of the androgen receptor to respond to testosterone.
QCCP2, Androgen insensitivity syndrome (testicular feminization).
Alport syndrome and thin basement membrane disease are inherited nephritic syndromes due to deficiencies in which of the following:
A. nephrin
B. collagen, type II
C. collagen, type IV
D. D neurofilaments
E. tubulin
C. collagen, type IV.
Alport syndrome most commonly is inherited as an X-linked recessive disease and, as such, primarily affects males with sensorineural hearing loss, glomerulonephritis,
and ocular lesions. Three genes have been identified as being involved with this family of diseases. One, COL4A5, encodes the alpha 5 chain of type IV collagen and is
the cause of Alport syndrome.
QCCP2, Inherited nephritic syndromes (collagen IV-related nephropathies).
Autosomal dominant polycystic kidney disease (ADPKD) is associated with a contiguous gene syndrome which presents with features overlapping those of multiple
syndromes due to deletions in two or more closely adjacent genes. Match the two genes that are often comutated.
A. PKD1/TSC1
B. PKD2/TSC2
C. PKD1/VHL
D. PKD2/VHL
E. PKD1/TSC2
E. PKD1/TSC2.
PKD1 and TSC2 are located immediately adjacent to each other on chromosome 16p13. The majority of cases of autosomal dominant polycystic kidney disease are
associated with mutations of PKD1 (85%). Of these, a small percentage has symptoms that overlap with tuberous sclerosis. The majority of cases of tuberous sclerosis
are due to mutations of TSC2 (80-90%).
QCCP2, Autosomal dominant polycystic kidney disease (ADPKD).
Fabry disease, Lesch-Nyhan, and Hunter disease are all metabolic diseases inherited in this fashion:
A. autosomal recessive
B. autosomal dominant
C. X-linked recessive
D. X-linked dominant
E. maternal (mitochondrial)
C. X-linked recessive.
While the vast majority of metabolic diseases are inherited in an autosomal recessive fashion, there are at least three notable exceptions - Fabry, Hunter, and Lesch-
Nyhan diseases.
QCCP2, Metabolic diseases
Which of the following genes is mutated in autosomal recessive polycystic kidney disease?
A. NPHP1
B. PKD1
C. PKD2
D. PKHD1
E. PKHD2
D. PKHD1.
Mutations in the NPHP1 gene are associated with juvenile-onset nephronophthsis. PKD1 and PKD2 mutations are seen in autosomal dominant polycystic kidney disease.
PKHD1, or polycystic kidney and hepatic disease gene 1, is located on chromosome 6p12 and encodes a protein of uncertain function, polycystin.
QCCP2, Inherited polycystic kidney diseases.
Which two metabolic diseases are screened for in EVERY state (pick 2)?
A. Hunter disease
B. phenylketonuria
C. Tay-Sachs
D. galactosemia
E. congenital hypothyroidism
B. phenylketonuria.
E. congenital hypothyroidism.
Galactosemia and sickle cell disease are the second most widely screened diseases. Many, many other diseases are screened, but these vary from state to state.
QCCP2, Metabolic diseases.
Which of the following genes is associated with cystic renal dysplasia?
A. MCDK1
B. NPHP1
C. NPHP2
D. PKD1
E. none of the above
E. none of the above.
Actually, cystic renal dysplasia is non-Mendelian and sporadic. It may be reactive in response to ureteral obstruction - similar to the reactive condition, nephrogenic
adenoma.
QCCP2, Cystic renal dysplasia
What is the primary difference phenotypically between juvenile and adult-onset nephronophthisis?
A. extrarenal anomalies
B. the presence of cartilage
C. the size of the cysts
D. sensorineural hearing loss
E. tuberous sclerosis
A. extrarenal anomalies.
Juvenile-onset nephronophthsis is an autosomal recessive mutation in NPHP1 and is associated with cortical cysts with occasional extrarenal manifestations, such as
hepatic fibrosis and retinal degeneration. The adult forms are associated with mutations in different genes, NPHP1 and NPHP2. While the renal symptoms of adult-onset
nephronophthsis are the same as the juvenile form, there is generally an absence of extrarenal disease.
QCCP2, Nephronophthsis.
What is the most common presentation of autosomal dominant polycystic kidney disease?
A. renal stones
B. hypertension
C. liver cysts
D. intracranial Berry aneurysms
E. mitral valve prolapse
B. hypertension.
While all of the choices are associated with ADPKD, hypertension is seen in almost all cases and is often the presenting symptom. Of the remaining choices, liver cysts
are seen in almost 3/4 of cases. Renal stones, Berry aneurysms, and mitral valve prolapse are seen in 20-25% of patients.
QCCP2, Autosomal dominant polycystic kidney disease (ADPKD).
Autosomal dominant polycystic kidney disease (ADPKD) is associated with a contiguous gene syndrome which presents with features overlapping those of multiple
syndromes due to deletions in two or more closely adjacent genes. Match the two genes that are often comutated.
A. PKD1/TSC1
B. PKD2/TSC2
C. PKD1/VHL
D. PKD2/VHL
E. PKD1/TSC2
E. PKD1/TSC2.
PKD1 and TSC2 are located immediately adjacent to each other on chromosome 16p13. The majority of cases of autosomal dominant polycystic kidney disease are
associated with mutations of PKD1 (85%). Of these, a small percentage has symptoms that overlap with tuberous sclerosis. The majority of cases of tuberous sclerosis
are due to mutations of TSC2 (80-90%).
QCCP2, Autosomal dominant polycystic kidney disease (ADPKD).
Fabry disease, Lesch-Nyhan, and Hunter disease are all metabolic diseases inherited in this fashion:
A. autosomal recessive
B. autosomal dominant
C. X-linked recessive
D. X-linked dominant
E. maternal (mitochondrial)
C. X-linked recessive.
While the vast majority of metabolic diseases are inherited in an autosomal recessive fashion, there are at least three notable exceptions - Fabry, Hunter, and Lesch-
Nyhan diseases.
QCCP2, Metabolic diseases
Which two metabolic diseases are screened for in EVERY state (pick 2)?
A. Hunter disease
B. phenylketonuria
C. Tay-Sachs
D. galactosemia
E. congenital hypothyroidism
B. phenylketonuria.
E. congenital hypothyroidism.
Galactosemia and sickle cell disease are the second most widely screened diseases. Many, many other diseases are screened, but these vary from state to state.
QCCP2, Metabolic diseases.