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Pediatrics Clerkship > Immunodeficiency > Flashcards

Immunodeficiency Flashcards

1
Q

Bruton’s X-Linked Agammaglobulinemia Pathogenesis

A

X-linked, no immunoglobulins created. B cell disease

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2
Q

Bruton’s Agammaglobulinemia patient

A

Recurrent severe infections with bacteria. In boys, prolonged and severe infections

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3
Q

How to diagnose Bruton’s Agammaglobulinemia?

A

Look at Ig level. All levels are low.

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4
Q

Treatment for Brutons Agammaglobulinemia

A

Give IG every month, give prophylactic antibiotics

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5
Q

What happens if you see repeated infections that begin in a teen?

A

Mixed combined immunodeficiency

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6
Q

IgA deficiency patient presentation?

A

Mucosal infections, GI tract and respiratory tract infections.

Or

Asymptomatic and anaphylaxis with blood products

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7
Q

HyperIgM pathogenesis

A

No class switching

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8
Q

HyperIgM patient presentation?

A

Recurrent bacterial infections

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9
Q

How to diagnose hyperigm?

A

IgA and IgG decreased. IgM way up

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10
Q

Chronic granulomatous disease pathogenesis

A

Defect in nadph oxidase

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11
Q

CGD patient presentation?

A

Recurrent infections with catalase positive organisms, staph infections (caught inside macrophages), impetigo.

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12
Q

How do diagnose CGD

A

Nitroblue test or DHR. Increased IgM IgG, white blood cells.

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13
Q

DiGeorge Syndrome pathogenesis

A

Dysfunctional development of the third pharyngeal pouch

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14
Q

How does patient with Digeorge Syndrome Present?

A

Wide eyes, low set ears, small face, absent thymic shadow. Fungal and PCP infections.

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15
Q

How to diagnose digeorge syndrome

A

CBC which shows decreased absolute lymphocyte count, mitogen stimulation assay.

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16
Q

Other consequences of digeorge syndrome

A

Decreased CA due to absent PTH which leads to tetany and seizures.

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17
Q

Wiskott Aldrich pathogenesis

A

X-linked, seen in boys

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18
Q

Wiskott Aldrich patient presentation?

A

Biys with normal infections but recurrant. Decreased ph, eczema, thrombocytopenia.

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19
Q

Diagnosis of Wiskott Aldrich

A

Increased IgG and IgM, treat with Bm transplant

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20
Q

Ataxia telangiectasia

A

Defect in DNA repair. Causes ataxia and telangiectasia and immunodeficiency. Also predisposed to leukemia and lymphoma.

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21
Q

SCID pathogenesis

A

ADA deficiency, literally no immune system

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22
Q

How does patient with SCID present?

A

With mega aids, MAC PCP

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23
Q

Tx for scid

A

Isolate patient, Bactrim, azithromycin.

24
Q

How to diagnose SCID?

A

No immunoglobulin, No b cells, no t cells.

25
Q

Patau Syndrome

A

Trisomy 13, small baby, polydactly, cleft lip

26
Q

Edwards Syndrome

A

Trisomy 18, clenched fists, small palpebral fissures, rocker bottom feet, VSD

27
Q

Down Syndrome

A

Trisomy 21, prominant epicanthal folds, brushfield spots,

28
Q

Von hippel lindau syndrome

A

Chromosome 3. Hemangiomas in the brain, spinal cord, etc. BILATERAL renal cell carcinomas

29
Q

Achondroplasia

A

On 4 FGFR, associated with adnacned paternal age.

30
Q

NF1

A

Chromosome 17. Cafe au lait spots, cutaneous neurofibroma, lisch nodules. Increased tumor risks

31
Q

Marfan’s Syndrome

A

On chromosome 15, fibrillin. Tall, pectus, aortic dissection

32
Q

Von Willibrand disease

A

Increased bleeding time and increased PTT. Treat with DDAVP

33
Q

Tuberous Sclerosis

A

Ash-leaf spots, seizures, sebaceous adenomas.

34
Q

Kleinfelter’s Syndrome

A

XXY, hypogonadism, testicular atrophy, eunuchoid body type

35
Q

Turner Syndrome

A

XO, streak ovary, neck webbing, amenorrhea, lymphoid abnormalities,

36
Q

Male pseudohermaphrodite

A

Are XY, but have blind ending vagina because of failure of testosterone receptor (testicular feminization)

37
Q

5alphareductase deficiency

A

Female until puberty because of no DHT from T, then huge T surge causes male development

38
Q

PKU

A

Defect in phenylalanine hydroxylase that causes high levels of phe from tyrosine. Demyelinating disease, with mousy odor. Tyrosine becomes essential.

39
Q

Albanism

A

Absense of tyrosinase causes inability to create melanin from tyrosine. Increased risk of skin cancer.

40
Q

Galactosemia

A

Defect in an enzyme (gal 1 p uridyltransferase) that causes buildup of galactose in blood. Leads to cataracts, cirrhosis. Failure to thrive.

41
Q

Maple syrup urine disease

A

Failure to break down branched chain amino acids (no alphaketoacid dehydrogenase). Isoleucine, leucine, valine. Sweet smelling urine, MR and death.

42
Q

Homocysteinuria

A

Cystathionine synthase, methionine synthase. Or decreased affinity for B6. Causes stroke, coronary artery disease, lens dislocation

43
Q

Alkaptonuria

A

Benign, causes black urine. Homogentisic acid oxidase.

44
Q

Lesch Nyhan Syndrome

A

HGPRT

Gout, Pissed off (self-mutlation)
Retardation

45
Q

Fabry’s Disease

A

alpha galactosidase deficiency with a buildup of ceramide trihexoside. Causes RENAL FAILURE and PERIPHERAL neuropathy.

46
Q

Gaucher’s Disease

A

Most common, hepatosplenomegaly, lipid-laden macrophages. Femur necrosis

47
Q

Niemann Pick disease

A

Neurodegeneration, cherry red spot on macula, hepatosplenomegaly.

48
Q

Tay Sachs

A

Progressive neurodegeration, cherry red spot on macula, lysosomes with onion skin, no hepatosplenomegaly.

49
Q

Metachromatic leukodystrophy

A

Demyelinating disorder with ataxia and dementia

50
Q

Hurler Syndrome

A

Coarse facial features, cataracts, HSM

51
Q

Hunter Syndrome

A

Mild hurler, no corneal clouding.

52
Q

Von Gierke Syndrome

A

Type 1 GSD. Severe hypoglycemia, increased lactate. Increased glycogen in liver. Defect in glucose 6 phosphatase.

53
Q

Pompe’s Disease

A

Cardiomyopathy. Type II GSD, defect in acid maltase

54
Q

Cori Disease

A

Milder form of von gierke

55
Q

McArdle Disease

A

Can’t break down glycogen in muscle so causes myoglobinuria and painful cramps.

56
Q

Contributing factors to neonatal respiratory distress syndrome?

A

Prematurity and maternal diabetes

Pediatrics Clerkship (7 decks)

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