Diseases Flashcards
1
Q
Pedigree and mechanism of Fabry disease?
A
X linked
Alpha-galactosidase enzyme
Lysosomal storage disease
2
Q
Clinical features of Fabry?
A
Corneal opacity
Angiokeratoma
Acroparethesias
3
Q
Rx for Fabry?
A
Enzyme replacement therapy
4
Q
Diagnosis for Fabry?
A
Males
Enzyme analysis
DNA analysis
Female
DNA analysis
5
Q
Genetic counseling for Fabry?
A
X linked
Recurrence risk
6
Q
Pedigree and mechanism of galactosemia
A
Autosomal recessive
Galactose-1-phosphate uridyltransferase (GALT)
7
Q
Clinical features of Galactosemia?
A
Cataract
Hepatomegaly
E coli sepsis
8
Q
Rx for Galactosemia?
A
Dietary intervention
Lactose restriction
9
Q
Diagnosis of galactosemia?
A
Newborn screen
Blood enzyme activity
DNA analysis
10
Q
Counseling for galactosemia?
A
Recurrence risk
11
Q
Pedigree and mechanism for Gaucher disease
A
Autosomal recessive
Glucosylceramidase (glucocerebrocidase) enzyme
Lysosomal storage disorder
12
Q
Clinical features of Gaucher disease
A
Anemia
Hepatosplenomegaly
(No cherry red spot)
13
Q
Diagnosis of Gaucher
A
Enzyme analysis
DNA analysis
14
Q
Counseling for Gaucher?
A
Recurrence risk
15
Q
Pedigree and mechanism of Homocystinuria
A
Autosomal recessive
Cystathionine beta-synthase enzyme
Aminoacidopathy
16
Q
Clinical features of homocystinuria
A
Ectopic lentis
Thromoembolism
Mental retardation / developmental disorder
Marfanoid
17
Q
Rx for Homocystinuria
A
Dietary intervention
Protein restriction
18
Q
Diagnosis of homocystinuria
A
Newborn screen
Urine homocystine
Plasma amino acid
Enzyme analysis
DNA analysis
19
Q
Counseling for homocystinuria
A
Recurrence risk
20
Q
Pedigree and mechanism for Hurler syndrome?
A
Mucopolysaccharidosis Type I
Autosomal recessive
Lysosomal storage disease
21
Q
Clinical features of Hurler
A
Coarse features
Mental retardation
Hepatosplenomegaly
22
Q
Rx for Hurler
A
Enzyme replacement therapy
Bone marrow transplant
23
Q
Diagnosis of Hurler
A
Blood enzyme
DNA analysis
24
Q
Counseling for Hurler?
A
Recurrence risk
25
Pedigree and basic mechanism of Leber hereditary optic neuropathy (LHON)?
Maternal inheritance
mtDNA mutations
26
Clinical features of LHON?
Bilateral vision loss as young adult
27
Diagnosis of LHON?
Opthalmology exam
mtDNA analysis
28
Counseling for LHON?
Mother - heteroplasmic (multiple different mitochondria DNAs)
Complicated mitochondrial inheritance
29
Pedigree and basic mechanism of Maple syrup urine disease
Autosomal recessive
Branched chain alpha-ketoacid dehydrogenase enyme complex (BCKAD)
Aminoacidopathy
30
Clinical features of MSUD?
Lethargy-coma
Seizures
Maple syrup odor
31
Rx of MSUD?
```
Dietary intervention
BCAA restriction (leucine, isoleucine, valine)
```
32
Diagnosis of MSUD?
Newborn screen
Plasma amino acids (elevated branched chain AA)
Enzyme analysis
DNA analysis
33
Counseling for MSUD?
Recurrence risk
34
Pedigree and mechanism of Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCAD)?
Autosomal recessive
Medium chain acyl coenzyme A dehydrogenase enzyme
Fattty acid oxidation defect
35
Clinical features of MCAD deficiency?
Hypoketotic Hypoglycemia
Myopathy
Cardiomyopathy
36
Rx for MCAD deficiency?
Avoid fasting
Frequent feeding
Lots of carbs
37
Diagnosis of MCAD deficiency?
Newborn screen
Plasma acylcarnitines
Enzyme analysis
DNA analysis
38
Counseling for MCAD deficiency?
Recurrence risk
39
Pedigree and mechanism of MELAS?
Maternal inheritance
mtDNA mutations e.g. m.3243 A to G MT-TL1
40
Clinical features of MELAS?
Mitochondrial encephalomyopathy
Lactic acidosis
Stroke-like episodes
41
Diagnosis of MELAS?
Clinical evaluation
Lactate
Brain imaging
Muscle biopsy
mtDNA analysis
42
Counseling of MELAS?
Mother - heteroplasmic
Complicated mitochondrial inheritance
43
Methylmalonic acidemia pedigree and mechanism?
Autosomal recessive
Organic acidemia
44
Clinical features of methylmalonic acidemia?
Severe ketoacidosis
Seizures
Encephalopathy
45
Diagnosis of methylmalonic acidemia?
Urine organic acids
Enzyme analysis
DNA analysis
46
Counseling for methylmalonic acidemia?
Recurrence risk
47
Pedigree and mechanism for OTC deficiency?
X linked recessive
Urea cycle disorder
48
Clinical features of OTC deficiency?
Coma
Seizures
Hyperammonemia
49
Rx for OTC deficiency?
Hemodialysis
50
Diagnosis of OTC deficiency?
Newborn screen
Urine organic acid
Plasma amino acids
Enzyme analysis
DNA analysis
51
Counseling for OTC deficiency?
X linked - severe in males
Variability in females
52
Pedigree and mechanism for PKU?
Autosomal recessive
Phenylalanine hydroxylase enzyme
Aminoacidopathy
53
Clinical features of PKU
Mental retardation
Blue eyes fair skin
Eczematous rash
54
Rx for PKU
Dietary intervention
| Phenylalanine restriction
55
Diagnosis of PKU?
Newborn screen
Plasma phenylalanine
56
Counseling for PKU?
Recurrence risk
57
Pedigree and mechanism for Pompe disease
Autosomal recessive
Acid alpha-glucosidase enzyme
Glycogen storage and Lysosomal storage disorder
58
Clinical features of Pompe disease
Cardiomegaly
Hypertrophic cardiomyopathy
Macroglossia
Muscle weakness
59
Rx for Pompe disease
Enzyme replacement treatment
60
Diagnosis of Pompe disease?
Blood enzyme
| DNA analysis
61
Counseling for Pompe disease?
Recurrence risk
62
Pedigree and basic mechanism for Tay-Sachs
Autosomal recessive
Hexosaminidase A enzyme
Lysosomal storage disease
63
Clinical features of Tay-Sachs
Infant
Cherry red spot
Progressive neurodegeneration
64
Diagnosis of Tay Sachs?
Clinical features
Enzyme analysis
DNA analysis
65
Counseling of Tay Sachs?
Recurrence risk
66
Pedigree and basic mechanism of von Gierke's disease
Autosomal recessive
Glucose-6-phosphotase enzyme
Glycogen storage disease
67
Clinical features of von Gierke's disease
Hypoglycemia
Massive hepatomegaly
Lactic acidosis
68
Rx for von Gierke's disease
Avoid fasting
Frequent feedings
High carb
69
Diagnosis of von Gierke's disease?
Clinical features
Liver enzyme analysis
DNA analysis
70
Counseling of von Gierke's disease?
Recurrence risk
71
Pedigree and mechanism of zellweger syndrome?
Autosomal recessive
Peroxisomal disease
72
Clinical features of Zellweger syndrome?
Hypotonia
Facial dysmorphism
Elevated very long chain fatty acids
73
Diagnosis of Zellweger syndrome?
Biochem testing including plasma VLCFA
| DNA analysis
74
Pedigree and mechanism of Ataxia telangiectasia?
Autosomal recessive
| Chromosome breakage disorder
75
Clinical features of ataxia telangiectasia?
Ataxia Telangiectasias,
| Cancer risk
76
Diagnosis of ataxia telangiectasia?
Clinical features
| DNA sequencing
77
Counseling with ataxia telangiectasia?
Risk assessment
Screening/surveillance
Carriers may be at risk of cancer
78
BRCA1 and BRCA2 pedigree and mechanism?
Autosomal dominant
Tumor supressor genes
79
Clinical features of BRCA1/2?
Breast cancer
| Ovarian cancer
80
Rx for BRCA1/2?
Surgery/chemo
Cancer surveillance
Prophylatic surgery
81
Diagnosis of BRCA1/2?
Clinical evalulation - mammography
Pedigree analysis
Common mutation analysis
Full sequencing
82
Counseling for BRCA1/2?
Risk assessment
| Screening/surveillance
83
Pedigree and mechanism of Cowden disease?
AD
PTEN gene
84
Clinical features of Cowden?
GI hamartomatous polyposis
Risk of Breast cancer, thyroid cancer, endometrial cancer
85
Diagnosis of Cowden disease?
Clinical eval
Pedigree analysis
DNA sequencing
86
Counseling for cowden?
Risk assessment
| Screening/surveillance
87
FAP mechanism and pedigree?
AD
APC gene tumor suppressor
88
Clinical features of FAP?
Adenomatous colonic polyps (100-1000) in childhood to adol.
Attenuated FAP: fewer polyps
Gardner syndrome: osteomas and soft tissue tumors
Turcot syndrome: CNS tumors (medulloblastoma)
89
FAP differentials?
Ademonatous colonic polyps (100-1000)
Gardner = + osteomas and soft tissue tumors
Turcot = +CNS tumors (medulloblastoma)
90
Rx for FAP?
Surg/chemo
Cancer surveillance
Prophylatic surgery
91
Counseling for FAP?
Risk assessment
Screening/surveillance
92
Mechanism and pedigree for Fanconi anemia?
Autosomal recessive
Chromosome breakage disorder
93
Clinical features of Fanconi anemia?
Radial hypoplasia
Pancytopenia
94
Rx for Fanconi anemia?
Bone marrow transplant
95
Diagnosis of Fanconi anemia?
Chromosome breakage studies
DNA sequencing
Del/Dup analysis
96
Counseling for Fanconi anemia?
Risk assessment
Screening/surveillance
97
Mechanisms and pedigree for Li-Fraumeni?
AD
TP53 gene tumor suppressor
98
Clinical features of Li Fraumeni?
Very high risk of:
Soft tissue sacromas
Osteosarcomas
Bilateral breast cancer
CNS tumors
99
Diagnosis of Li-Fraumeni?
Pathology
DNA sequencing
100
Counseling of Li-Fraumeni?
Risk assessment
| Screening/surveillance
101
Mechanism and pedigree of Lynch syndrome?
HNPCC
AD
Mismatch repair genes MLH1 and MSH2
102
Clinical features of Lynch syndrome?
NPNCC-related tumors:
Colorectal
Endometrial
Ovarian
Urinary tract
103
Rx for Lynch syndrome?
Colectomy
Cancer surveillance
104
Diagnosis of Lynch syndrome?
Clinical/pedigree - Amsterdam criteria
Tumor testing - microsatellite instability and immunohisto
DNA sequencing
105
Counseling for Lynch sydrome?
Risk assessment
Screening/surveillance
106
Pedigree for Multiple endocrine neoplasia 1?
AD
107
Clinical features of MEN1?
PPP
Pituitary
Parathyroid
Pancreas
108
Diagnosis of MEN1?
Endocrine studies
Brain MRI
DNA sequencing
109
Counseling for MEN1?
Risk assessment
| Screening/surveillance
110
Mechanism and pedigree of MEN2A/B?
AD
RET gene
Proto-oncogene
111
Clinical features of MEN2A/B?
Thyroid - medullary cancer
| Pheochromocytoma
112
Diagnosis of MEN2A/B?
Biochem studies
Catecholamines
DNA sequencing
113
Counselling of MEN2A/B?
Risk assessment
Screening/surveillance
114
Pedigree of Peutz-Jeghers syndrome?
AD
115
Clinical features of Petuz-Jeghers syndrome?
Hyperpigmented macules - lips/mouth
GI hamartomatous polyps
116
Diagnsois of Petuz-Jeghers syndrome?
Clinical eval - endo/colonoscopy
Pedigree analysis
DNA sequencing
117
Counseling for Petuz-Jeghers?
Risk assessment
| Screening/surveillance
118
Mechanism and pedigree of Retinoblastoma?
AD
RB1 gene tumor supressor
119
Clinical features of Rb?
Retinal tumors
120
Diagnosis of Rb?
Opthalomoscopy
Imaging
DNA sequecing
121
Mechanism and pedigree of Von Hippel Lindau?
AD
VHL gene tumor supressor
122
Clinical features of Von Hippel Lindau?
Hemangioblastoma
Pheochromocytoma
Renal cell cancer
123
Diagnosis of Von Hippel Lindau?
CT or MRI
Urine catecholamine metabolites
Renal US
DNA sequencing
124
Counseling of Von Hippel Lindau?
Risk assessment and screening/surveillance
125
Inheritance of Hunter? Symptoms?
X linked
Coarse features
Mental retardation
Hepatosplenomegaly
126
Mechanism and Pedigree of Duchenne/Becker MD?
X linked recessive
DMD gene (dystrophin)
127
Clinical features of Duchenne/Becker MD?
Muscle weakness
Delayed motor milestones
Distal muscular hypertrophy
Cardiomyopathy
Becker: Later onset
128
Diagnosis of Duchenne/Becker MD?
Clincial features
Creatinine
Phosphokinase assay (increased)
Muscle biopsy and immunohistochemistry
DNA testing
129
Counseling for Duchenne/Becker MD?
X linked
Recurrence risk
