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23 Cards in this Set

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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


Cholestasis


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

B12

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

Apolipoproteinemia

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

Steroids

Cryptosporidum

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


MC fecal contam infzn at water park


Dx oocysts w sporozoites


Rx nitrazoxanide