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Common inherited disorderes Flashcards

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1
Q

Autosomal dominant polycystic kidney disease (ADPKD)

A

Bilateral kidney enlargement due to large cysts.
Most: mutation in PKD1 (Chr16–16 letters in polycystic kidney)
Some: mutation in PKD2 (Chr4)
AD

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2
Q

Familial adenomatous polyposis

A

Colon covered in adenomatous polyps after puberty, progresses to colon cancer without resection.
Mutation in APC gene (Chr5–5 letters in polyp)
AD

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3
Q

Familial hypercholesterolemia

A

High LDL due to defective/absent LDL receptor–severe atherosclerotic disease, tendon xanthomas.
AD

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4
Q

Hereditary hemorrhagic telangectasia

A

Inherited blood vessel disorder–telangectasia, recurrent epistaxis, skin discolorations, AVMs, GI bleeding, hematuria. AKA Osler-Weber-Rendu Syndrome.
AD

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5
Q

Hereditary spherocytosis

A

Spheroid erythrocytes due to spectrin or ankyrin defect; hemolytic anemia; increased MCHC. Treat with splenectomy.
AD

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6
Q

Huntington disease

A

Sx: depression, progressive dementia, choreiform movements, caudate atrophy, low GABA/Ach in brain. Trinucleotide repeat disorder (CAG), Chr 4, more repeats–earlier onset
AD

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7
Q

Marfan syndrome

A

Fibrillin 1 gene mutation: connective tissue disorder affecting skeleton, heart, eyes. findings: tall, long extremities, pectus excavatum, hypermobile joints, arachnodactyly. Cystic medial necrosis of aorta–aortic incompetence/dissecting aortic aneurysms. Floppy mitral valve. Subluxation of lenses.
AD

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8
Q

Multiple endocrine neoplasias Type I (MEN 1)

A

Tumors of Pituitary, Parathyroid, Pancreas (3 P’s, draw a diamond)
AD

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9
Q

Multiple endocrine neoplasias Type 2A (MEN 2A)

A

Medullary thyroid carcinoma (calcitonin), Parathyroid, and Pheochromocytoma (2 P’s, draw a square)
Mutation in ret
AD

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10
Q

Multiple endocrine neoplasias type 2B (MEN 2B)

A

Medullary thyroid carcinoma (calcitonin), Pheocromocytoma, oral/intestinal ganglioneuromatosis (mucosal neuromas, marfanoid habitus (1 P, draw a triangle with top at mouth)
Mutation in ret
AD

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11
Q

Neurofibromatosis type 1 (von Recklinghausen disease)

A

cafe-au-lait spots, cutaneous neurofibromas.
Mutation in NF-1 gene on Chr17 (17 letters in von Recklinghausen)
AD, 100% penetrance but variable expression

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12
Q

Neurofibromatosis type 2

A

Bilateral acoustic Schwannomas, juvenile cataracts, meningiomas, ependymomas.
NF2 gene, Chr22 (type 2, 22)
AD

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13
Q

Tuberous sclerosis

A

Neurocutaneous disorder w multiorgan system involvement, numerous benign hamartomas.
AD, incomplete penetrance, variable expression

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14
Q

von Hippel-Lindau disease

A

Development of numerous tumors (benign and malignant)
Deletion of VHL gene (tumor suppressor) on Chr 3 (3p).
AD
Von Hippel Lindau = 3 words for Chr3

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15
Q

Cystic fibrosis

A

Defect in CFTR gene on Chr7 (commonly deletion of Phe508), which encodes ATP-gated Cl- channel that secretes Cl- in lungs/GI tract and reabsorbs Cl- in sweat.
AR

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16
Q

X-linked recessive disorders to remember

A 
Bruton agammaglobulinemia
Wiskott-Aldrich syndrome
Fabry disease
G6PD deficiency
Ocular albinism
Lesch-Nyhan syndrome
Duchenne (and Becker) muscular dystrophy
Hunter syndrome
Hemophilia A and B
Ornithine transcarbamylase deficiency
(Be Wise, Fool's GOLD Heeds Silly HOpe)
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17
Q

Duchenne muscular dystrophy

A 
X-linked recessive frameshift mutation--truncated dystrophin--accelerated muscle breakdown.  
Dystophin gene (DMD) has longest coding region of any human gene
Weakness starting in pelvic girdle, moving up; pseudohypertrophy of calfs; Gower maneuver; death by dilated cardiomyopathy.
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18
Q

Becker muscular dystrophy

A

X-linked recessive point mutation in dystrophin gene (no frameshift). Less severe/later onset than Duchenne.

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19
Q

Myotonic type 1 muscular dystrophy

A

CTG trinucleotide repeat expansion in DMPK gene–abnormal expression of myotonin protein kinase–myotonia, muscle wasting, frontal balding, cataracts, testicular atrophy, arrhythmia.
X-linked recessive.

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20
Q

Fragile X syndrome

A

X-linked recessive
Affects methylation/expression of FMR1 gene. Trinucleotide repeat disorder (CGG).
2nd most common cause of genetic intellectual disability.
Findings: post-pubertal macroorchidism, long face/large jaw, large everted ears, autism, mitral valve prolapse

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21
Q

Trinucleotide repeat expansion diseases to remember

A 
Huntington disease  (CAG)
Myotonic dystrophy (CTG)
Friedreich ataxia (GAA)
Fragile X (CGG)
(Tri Hunting My Fried Eggs (X))
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22
Q

Down Syndrome

A 
Trisomy 21, 1:700
Findings:
intellectual disability
Flat facies, prominent epicanthal folds
Single palmar crease
gap between 1st two toes
duodenal atresia
Hirschsprung disease
congenital heart disease (primum-type ASD)
Brushfield spots
Incr. risk of ALL, AML, early Alzheimers

Most due to meiotic nondisjunction, assoc with advanced maternal age
1st trimester: Increased nuchal translucency, hypoplastic nasal bone, PAPP-A low, HCG high
Quad screen: Low AFP, High beta-HCG, Low estriol, High inhibin A

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23
Q

Edwards syndrome (Trisomy 18)

A

1:8000
Findings: severe intellectual disability, rocker-bottom feet, micrognathia, low-set ears, clenched hands, prominent occiput, congenital heart disease, death before 1 year
1st trimester: PAPP-A and HCG Low
Quad screen: Low AFP, Low beta-HCG, Low estriol, Low/normal inhibin A

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24
Q

Patau syndrome (Trisomy 13)

A

1:15000
Findings: severe intellectual disability, rocker-bottom feet, microphthalmia, microcephaly, cleft lip/palate, holoprosencephaly, polydactyly, congenital heart disease, death before one year.
1st trimester: Low HCG, Low PAPP-A, increased nuchal translucency

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25
Cri-du-chat syndrome
Congenital microdeletion of short arm of Chr5 (46XX or XY, 5p-) Findings: microcephaly, moderate/severe intellectual disability, high-pitched crying/mewing, epicanthal folds, cardiac abnormalities (VSD)
26
Williams syndrome
Congenital microdeletion of long arm of Chr 7 (including the elastin gene) Findings: "elfin" facies, intellectual disability, hypercalcemia (incr. sensitivity to VitD), well-developed verbal skills, friendly with strangers, cardiovascular problems
27
22q11 deletion syndromes
``` Aberrant development of 3rd/4th branchial pouches. Variable presentation, including: Cleft palate Abnormal Facies Thymic aplasia--T cell deficiency Cardiac defects Hypocalcemia (due to parathyroid aplasia) (CATCH-22) ``` ``` Includes: DiGeorge syndrome (thymic, parathyroid, cardiac defects) Velocardiofacial syndrome (palate, facial, cardiac defects) ```
28
DiGeorge syndrome
``` Due to 22q11 deletion, causing aberrant development of 3rd/4th branchial pouches. Thymic aplasia (T cel deficiency), parathyroid aplasia (hypocalcemia), cardiac defects ```
29
Velocardiofacial syndrome
Due to 22q11 deletion, causing aberrant development of 3rd/4th branchial pouches. Cleft lip/palate, cardiac defects
30
Adenosine deaminase deficiency
Autosomal recessive; one of the major causes of AR SCID. ATP/dATP build up, imbalance of nucleotide pool due to feedback inhibition of ribonucleotide reductase, which prevents DNA synthesis and decreases lymphocyte count
31
Lesch-Nyhan syndrome
Absence of HGPRT leads to defect purine salvage, resulting in excess uric acid production and de novo purine synthesis. Tx: allopurinol (or febuxostat) Findings: HGPRT (Hyperuricemia, Gout, Pissed off [aggression, self-mutilation], Retardation [intellectual disability], dysTonia) X-linked recessive
32
Osteogenesis imperfecta
Bone disorder cause by variety of gene defects (COL1A1 and COL1A2 genes) Most commonly autosomal dominant with decreased production of otherwise normal type I collagen (Type 1). Other types can have problems with collagen quantity and quality (problems forming triple helix)
33
Ehlers-Danlos syndrome
Faulty collagen synthesis--hyperextensible skin, tendency to bleed, hypermobile joints--problem crosslinking collagen molecules 6+ types, inheritance and severity vary (AR or AD). Most common type: hypermobility type (joint instability) Classic type: joint and skin symptoms, mutation in type V collagen Vascular type: Vascular/organ rupture, deficient type III collagen
34
Menkes disease
Connective tissue disorder due to impaired copper absorption/transport. Copper necessary for lysine-hydroxylysine crosslinking in collagen by lysyl oxidase. Brittle, kinky hair; growth retardation; hypotonia
35
Prader-Willi syndrome
Maternal imprinting of genes on Chr15: gene from mom in normally silent and paternal gene is absent or mutated. Causes hyperphagia, obesity, intellectual disability, hypogonadism, hypotonia 25% of cases due to maternal uniparental disomy.
36
Angelman syndrome
Paternal imprinting of genes on Chr15: gene from dad is normally silent, maternal gene is absent/mutated. Causes inappropriate laughter (happy puppet), seizures, ataxia, severe intellectual disability. 5% due to paternal uniparental disomy.
37
Maturity-onset diabetes of the young (MODY)
Mutation in gene for glucokinase (converts glucose to glucose-6-P for glycolysis in liver and Beta cells of pancreas/glycogen synthesis in the liver
38
Pyruvate dehydrogenase complex deficiency
Causes a buildup of pyrvate that gets shunted to lactate and alanine. Findings: neurological defects, lactic acidosis, high serum alanine starting in infancy Tx: high intake of ketogenic nutrients (high fat, high lysine/leucine content)
39
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
G6PD necessary to produce NADPH in HMP shunt. NADPH necessary to keep glutathione reduced so it can detoxify free radicals/peroxides (especially important in RBCs). Absence leads to increased susceptibility of RBCs to oxidative damage and resulting hemolytic anemia in times of oxidative stress (infection, certain meds, fava beans). Findings: Heinz bodies (oxidized Hb in RBCs), bite cells X-linked recessive
40
Essential fructosuria
Defect in fructokinase, benign (fructose not trapped in cells). AR
41
Fructose intolerance
Aldolase B deficiency leading to accumulation of Fructose-1-P, causing decrease in available P--inhibition of glycogenolysis and gluconeogenesis. Sx: hypoglycemia, jaundice, cirrhosis, vomiting. Tx: decreased intake of fructose and sucrose AR
42
Galactokinase deficiency
Hereditary deficiency of galactokinase (AR). Galactitol accumulates if galactose is present in diet. Mild. Sx: galactosuria/emia. Infantile cataracts.
43
Classic galactosemia
Absence of galactose-1-phosphate uridyltransferase, leads to damage due to accumulation of toxic substances (including galactitol, which accumulates in lens). Sx: failure to thrive, jaundice, hepatomegaly, infantile cataracts, intellectual disability. Tx: exclude lactose and galactose from diet Can lead to E. coli sepsis in neonates
44
N-acetylglutamate deficiency
N-acetylglutamate is a required cofactor for carbamoyl phosphate synthetase I (rate limiting step of urea cycle). Absence leads to hyperammonemia. Same presentation as carbamoyl phosphate synthetase I deficiency.
45
Ornithine transcarbamylase deficiency
Most common urea cycle disorder. X-linked recessive. Often evident in first few days of life but may present later. Defective elimination of ammonia. Excess carbamoyl phosphate is converted to orotic acid (pyrimidine synthesis pathway). Findings: High orotic acid in blood, decreased BUN, sx of hyperammonemia. No magaloblastic anemia (vs. orotic aciduria)
46
Phenylketonuria
Due to decreased phenylalanine hydroxylase or tetrahydrobiopterin cofactor. Tyrosine become essential. Phenylketones in urine. Findings: intellectual disability, growth retardation, seizures, fair skin, eczema, musty body odor. Tx: decrease phenylalanine and increase tyrosine in diet. Maternal PKU: causes microcephaly, intellectual disability, growth retardation, and congenital heart defects in fetus.
47
Alkaptonuria
Congenital deficiency of homogentisate in degradative pathway of tyrosine to fumarate. Benign. Findings: dark connective tissue, brown sclerae, urine turns dark on exposure to air, may have bad arthralgias AR
48
homocystinuria
Types: 1. Cystathionine synthase deficiency (Tx: decrease methioine, increase cysteine, increase B12 and folate) 2. Decreased affinity of cystathionine synthase for pyridoxal phosphate (Tx: load with B6 and increase cysteine) 3. Homocysteine methyltransferase (methionine synthase) deficiency (Tx: increase methionine in diet) All are AR, all result in excess homocysteine. Findings: homocysteinuria, intellectual disability, osteoporosis, tall statue, kyphoysis, lens subluxation, thrombosis, atherosclerosis.
49
Cystinuria
Hereditary defect of renal PCT and intestinal AA transporter for Cysteine, Ornithine, Lysine, Arginine (COLA) Excess urine cysteine--haxagonal cystine stones AR, 1:7000 Dx: urinary cyanide-nitroprusside test Tx: urinary alkalinization, chelating agents, hydration
50
Maple Syrup Urine Disease
Blocked degradation of branched amino acids (Isoleucine, Leucine, Valine) due to decreased alpha-ketoacid dehydrogenase (B1). Increase ketoacids in blood (esp leucine). Causes severe CNS defects, intellectual disability, death. Urine has maple syrup odor Tx: restriction of leucine, isoleucine, valine. Thiamine supplementation AR
51
Glycogen storage diseases to remember
Von Gierke's, Pompe, Cori, McArdle (Very Poor Carbohydrate Metabolism) All AR
52
von Gierke disease (type 1)
Glycogen storage disease, lacking glucose-6-phosphatase (can't complete gluconeogenesis) Findings: severe fasting hypoglycemia, lots of glycogen in the liver, increased blood lactate, hepatomegaly Tx: frequent oral glucose/cornstarch, avoid fructose/galactose AR
53
Pompe disease (type II)
Glycogen storage disease, lacking lysosomal a-1,4-glucosidase (acid maltase) Findings: cariomyopathy, systemic findings, early death AR
54
Cori disease
Glycogen storage disease, lacking a-1,6-glucosidase (debranching enzyme). Like a mild form of von Gierke's, normal lactate levels, largely intact gluconeogenesis. AR
55
McArdle disease
Glycogen storage disease, missing skeletal muscle glycogen phosphorylase (myophosphorylase). Increase glycogen in muscle, but can't break it down--muscle cramps, myoglobinuria, arrhythmia from electrolyte abnormalities AR
56
Sphingolipidoses (type of lysosomal storage disease) to remember
``` Fabry disease Gaucher disease Niemann-Pick disease Tay-Sachs disease Krabbe disease Metachromatic leukodystrophy ```
57
Fabry disease
Sphingolipidosis (lysosomal storage disease) Defect in a-galactosidase A Ceramide and trihexoside accumulate Peripheral neuropathy, angiokeratomas, cardiovascular/renal disease X-linked recessive
58
Gaucher disease
Sphingolipidosis (lysosomal storage disease) Defect in glucocerebrosidase (beta-glucosidase) Glucocerebroside accumulates Most common lysosomal storage disease. HSM, pancytopenia, aseptic necrosis of femur, bone crises, Gaucher cells (lipid-laden machrophages resembling crumpled tissue paper) Tx: recombinant glucocerebrosidase AR
59
Niemann-Pick disease
Sphingolipidosis (lysosomal storage disease) Defect in sphingomyelinase Sphingomyelin accumulates Progressive neurodegeneration, HSM, cherry red spot of macula, foam cells AR "No man picks (Niemann-Pick) his nose with his sphinger)
60
Tay-Sachs disease
Sphingolipidosis (lysosomal storage disease) Defect in hexosaminidase A GM2 ganglioside accumulates Progressive neurodegeneration, developmental delay, cherry red spot on macula, lysosomes with onion skin, no HSM (vs Niemann-Pick) AR
61
Krabbe disease
Sphingolipidosis (lysosomal storage disease) Defect in Galactocerebrosidase Galactocerebroside, psychosine accumulate Peripheral neuropathy, developmental delay, optic atrophy, globoid cells AR
62
Metachromatic leukodystrophy
Sphingolipidosis (lysosomal storage disease) Defect in Arylsulfatase A Cerebroside sulfate accumulates Central and peripheral demyelination with ataxia, dementia AR
63
Hurler syndrome
Mucopolysaccharidosis (lysosomal storage disease) Defect in a-L-iduronidase Heparan sulfate, dermatan sulfate accumulate Developmental delay, gargoylism, airway obstruction, corneal clouding, HSM AR
64
Hunter syndrome
Mucopolysaccharidosis (lysosomal storage disease) Defect in Iduronidate sulfatase Heparan sulfate, dermatan sulfate accumulate Like Mild Hurler disease plus aggressive behavior, no corneal clouding X-linked recessive

Common Inherited Disorders (1 decks)

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