Random Diseases Qs

Question 1

No helicase, short stature, rash, cafe au lait spots, inc risk of leukemia,lymphoma

Answer 1

Bloom Syndrome

Question 2

No thumb (hypoplastic), Inc risk of AML

Answer 2

Fanconi

Question 3

Thumb with 3 phalanges

Answer 3

Diamond Blackfan

Question 4

Newborn cataracts seen in?

Answer 4

Galactokinase def, Classic galactosemia, Trisomies, Intrauterine infections (Toxoplasmosis, Rubella, CMV, Herpes Simplex)

Question 5

I cell disease

Answer 5

inclusion cell disease/mucolipidosis type II)—inherited lysosomal storage disorder; defect in N-acetylglucosaminyl-1-phosphotransferase failure of the Golgi to phosphorylate mannose residues (ie, mannose-6-phosphate) on glycoproteins proteins are secreted extracellularly rather than delivered to lysosomes. Results in coarse facial features, clouded corneas, restricted joint movement, and high plasma levels of lysosomal enzymes. Often fatal in childhood.

Question 6

Pt has abdom surgery 5 days ago, not passed gas or had bowel movements since. Electrolytes, fluids Normal.

Answer 6

Paralytic ileus

Question 7

Renal Cell carcinoma has affiliation with which chromosome? Which other disease is assoc w/ same Chro?

Answer 7

Chromosome 3, VHL disease

Question 8

Fanconi syndrome causes

Answer 8

Hereditary defects (eg, Wilson disease, tyrosinemia, glycogen storage disease), ischemia, multiple myeloma, nephrotoxins/drugs (eg, ifosfamide, cisplatin), lead poisonin

Question 9

MoA of Fanconi syndrome –> metabolic acidosis

Answer 9

proximal renal tubule acidosis