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KMK Systemic Dz > 3 - Genes, Blood, Lymph > Flashcards

3 - Genes, Blood, Lymph Flashcards

1
Q

Down’s syndrome

  • genetics
  • characteristics
A

Trisomy 21
Most common xsomal disorder

Epicanthal folds
Congenital cataracts
Glaucoma
Strabismus
Keratoconus
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2
Q

Klinefelter’s syndrome

  • genetics
  • characteristics
A

Male with XXY (Calvin Kline = man)
-male primary hypogonadism

Testicular atrophy, long extremities, gynecomastia, female hair distributino, hypogonadism

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3
Q

Turner’s syndrome

  • genetics
  • characteristics
A

Female with X0 (Tina Turner = female)
-absent X

Ocular: problems TURNing eyes = BV issues
-strabismus, amblyopia, decr accommodation, convergence insufficiency

Systemic: short stature, dysgenesis, webbing of neck, coarctation (narrowing) of aorta

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4
Q

Von Hippel Lindau dz

  • genetics
  • characteristics
A

AD

Host of benign and malignant tumors
Retinal angiomas

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5
Q

Neurofibromatosis 1 (Von Recklinghausen’s)

  • genetics
  • characteristics
A

AD

Tumor-forming nerve cells
Triad: cafe au laits, neurofibromas, Lisch nodules (melanocytes)
Optic nerve gliomas can squeeze nerve
Assoc with congenital glaucoma

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6
Q

Marfan’s syndrome

  • genetics
  • characteristics
A

AD

CT disorder
Dissecting aortic aneurysm
Ocular: lens subluxation up and out RDs

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7
Q

Huntington’s chorea

  • genetics
  • characteristics
A

AD
Xsome 4

Problems with pursuits and saccades

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8
Q

Familial adenomatous polyposis (FAP)

  • genetics
  • characteristics
A

AD

Gardners = 4+ CHRPEs
Uni or bilateral

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9
Q

When signs/symp appear

  • auto dominant
  • auto recessive
A

Puberty

Earlier/childhood

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10
Q

Sickle cell anemia

  • genetics
  • characteristics
  • testing
A

AR

Valine substituted for glucamic acid (DNA issue)
Painful crises due to ischemia
Proliferative retinopathy (“sea fan”, DRVOS)

CBC: decr hemoglobin, incr reticulocytes (baby RBCs)
Broken down in liver = incr bilirubin

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11
Q

Tay-Sach’s dz

  • genetics
  • characteristics
A 
AR
Eastern European (Ashkenazi) Jews

Build-up of gangliosides in RGCs = white retina
Cherry red spot
ON atrophy

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12
Q

Fabry’s dz

  • genetics
  • characteristics
A

XLR

15yo M
Lipid disorder -> clots, ichemia, pain
Telangiectasia
Whorl K

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13
Q

Duchenne muscular dystrophy

  • genetics
  • characteristics
A

XLR
Deletion w/in gene encoding dystrophin

Weakness - tired when walking
Moves up to lungs/progresses superiorly

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14
Q

Osteogenesis imperfecta/Brittle bone dz

  • genetics
  • characteristics
A

Multifactorial disorder

Abnormal collagen synthesis
Ocular: blue sclera, keratoconus, megalocornea

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15
Q

Leber’s hereditary optic neuropathy

  • genetics
  • characteristics
A

Mitochondrial

25yo M
Bilateral asymmetric primary optic atrophy
Early: disc hyperemia, telangiectatic vessels
Late: progressive disc pallor, loss of central vision (BCVA 20/200 - CF)
-“my mother lever lost my eyes”

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16
Q

TDOME vowels

A

T1 collagen issues = blue sclera

17
Q

Iron-deficiency anemia

-characteristics

A

Most common (50%)

Impaired cellular function -> brittle hair, nail spooning, pica

18
Q

Aplastic anemia

  • characteristics
  • causes
A

Pancytopenia

Infectious agents
Radiation
Drugs: chloramphenicol, acetazolamide, methazolamide, TMP, methotrexate, pyrimethamine
(Dinosaur, 2 oral CAIs, 3 DHF reductase inhibitors)

19
Q

MCV

  • meaning
  • condns with low (2), normal (3), high (2)
A

Size of RBC

Low HgB +
Low MCV = iron-deficiency, thalassemias
Normal MCV = aplastic anemia, sickle cell, chronic kidney dz
High MCV = vit B12 deficiency, folic acid deficiency

20
Q

Vitamin B12 deficiency

-characteristics

A

Parietal cell problem (release intrinsic factor, stim HCl prod)
-e.g. pernicous anemia

21
Q

Multiple myeloma

-characteristics

A

Neoplastic disorder (cancer)

Results in bone destruction leading to aplastic anemia

22
Q

Hodgkin’s lymphoma

-characteristics

A

40% lymphomas
REED-STERNBERG CELLS (“owl eye” nucleus)

50% assoc with Epstein-Barr virus

Good prognosis if caught early

23
Q

Non-Hodgkin’s lymphoma

-characteristics

A

60% of lymphomas

Bone marrow biopsy to determine T-cell or B-cell type

Variable prognoses

24
Q

Leukemias

  • acute vs chronic
  • ocular finding
  • types with named cells and worse prognosis
A 
Acute = immature/blast cells
Chronic = mature cells

ROTH SPOTS

  • found in leukemia and endocarditis
  • retinal hemorrhage with a CWS inside

M’s = AML, CML

25
Q

Acute myeloblastic leukemia (AML)

  • who
  • blood work
A

Infants, mid-age

Normal WBC, excessive myeloblasts
AUER RODS

26
Q

Acute lymphoblastic leukemia (ALL)

  • who
  • blood work
  • prognosis
A

2-10yo

Normal WBC, excessive lymphoblasts

With tx: good prognosis

27
Q

Chronic myelocytic leukemia (CML)

  • who
  • blood work
  • prognosis
A

Older (60yo)

Extremely high WBC (50k-300k)
90% have PHILADELPHIA CHROMOSOME (“C Me Later in Philly”)

Poor prognosis - 3yr survival

28
Q

Chronic lymphocytic leukemia (CLL)

  • who
  • blood work
  • prognosis
A

Younger than CML, >50yo

High WBC (20k-200k)

Decent prognosis - survival 5-10 yr

29
Q

Terminology

  • penia
  • philia
  • cytosis
A

Penia = low

Philia+ Cytosis = high

KMK Systemic Dz (9 decks)

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