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23 Cards in this Set

  • Front
  • Back

D lactic acid acidosis

2/2 int overgrowth produced by gut bacteria

Causes ataxia & lethargy

Screening for PLE

Fecal enz/pro levels

Fecal fat stain screening

Pancreatic insufficiency: CF, shwachman syndrome)

Mucosal sz: celiac, intestinal lymphangectasia


Stool pH & reducing substances

Disaccharidase defic

Mucosal injury

Bacterial overgrowth

Short gut

Celiac dz

Hydrogen breath test

Disaccharidase defic (lactase, sucrase-isomaltase)

Celiac dz

Bacterial overgrowth

Moat likely vit defic if vegan


Vit c deficiency

Follicular hyperkerarosis, gingival bleeding, corkscrew coiled hairs

Vit a deficiency

Night blindness, bitot spots (keratinization of the cornea), xerophthalmia, corneal opacities, growth failure

Vit a excess

Scaly skin, pseusotumor cerebrovasc, hepatomegaly

Vit e deficiency

Neuro dysfct, hemolytic anemiA


Apo B defect

Steatorrhea, ftt

Chylomicron retention

Chylomicron exocytosis defect

Steatorrhea, ftt

Congenital chloride diarrhea

Cl/hco3 exchanger defect

Low pH diarrhea, alkalosis

Congenital sodium diarrhea

Na/H exchanger

High pH diarrhea, acidosis

Hartnup dz

Free neutral amino acids defect

Pellagra like

Blue diaper syndr

Tryptophan transport defect

Bluish urine stained diapers

Lowe syndr

Lysine and arg transport defect

Intellectual disability, cataracts, rickets

Acrodermatitis enterohepatica

Zinc transport defect

Diarrhea, FTT

Choledochal cyst triad

Sudden onset jaundice (direct bili)

Abd pain

Palpable mass RUQ

Jejunal atresia risk factors

Low BW

Multiple births

Maternal tobacco, cocaine use

Mowat Wilson syndrome

Chrom 2 deletion

Assocd w hirschsprung

MR, dysmorphic features, absent corpus callosum

Pyoderma gangrenosum rx



P/w low grade fever, anorexia, malaise, profuse D, occ V

MC fecal contam infzn at water park

Dx oocysts w sporozoites

Rx nitrazoxanide