GI Flashcards
What does the Paneth cells secrete?
Defensins
Pathophysiology of duodenal atresia
Failure of recanalization 8-10 weeks
Baby with features of Cornelia de Lange with abdominal distention and emesis. Dx?
Volvulus with malro
Xray with football sign in preterm. Where is the MC location of perforation?
Ileum
Most likely associated with NEC
Which is the most common atresia?
Jejunal/ileal -50% of atresias
If gastroschisis MC to ileal atresia
Type III apple peel atresia, short intestinal length
Abdominal distension in an IDM, filling defects. Dx
Meconium plug
Microcolon with enema that has filling defects. What do you test for?
CF
Meconium ileus
Abdominal distension with Increased acetylcholine staining on tissue biopsy. Diagnosis?
Hirschsprung’s disease
Short segment is most common 75% (sigmoid colon)
Associations: T21, heterochromia? Waardenburg syndrome, 13q deletion, neurofibromatosis, neuroblastoma
The placenta removes biliverdin T/F
False. Removes bilirubin
Which bilirubin crosses BBB?
Free unconjugated bilirubin
Which syndrome is associated with
decreased activity of glucuronyl transferase
and lead to elevated indirect bilirubin?
Gilbert (decreased activity) and CN (absent)
Multinucleated giant cells on liver biopsy and direct hyperbilirubinemia. Dx?
Neonatal idiopathic hepatitis
What is GALD?
Tx?
Gestational alloimmune liver disease
Assoc’d with iron depisition and multi organ failure
Maternal Alloimmune (IgG) attacks fetal hepatocytes
Immune mediated - mat ab crossing placenta
Tx - In uteto IVIG
Associated syndromes with omphalocele
Pentology of Cantrell
Beckwidth Weideman
OEIS (omphalocele, extrophy of bladder, imperforate anus, spinal disorder
MC (genetic abnormality) seen with aneuplody (T13, 18, 21) - 35-60% of all omphalocele
What happens at the terminal ileum
Active transport of Vit B12 and bile salts
What stimulates Paneth cells
Bacteria and bacterial components (lipopolysaccharude and lipoteichoic acid)
MC developmental malformation with complex CDH
Cardiac (60%)
Renal (23%)
GI (17%)
Hemochromatosis
Severe liver disease accompanied by iron accumulation in liver AND extra hepatic locations
(Consequence of fetal liver injury-
Phenotypic expression of liver injury initiated (for example) by GALD
Recurrence risk approaches 90% in pregnancies subsequent to the index case
What is WAGR syndrome
Wilms tumor
Aniridia
GU abnormalities
Retardation
What is VACTREL
Vertebral anomalies Anorectal malform Cardiac Tracheo esophageal defects Renal anomalies
What is a promising biochemical marker for NEC?
I FABP (urinary intestinal fatty acid binding protein)
Increased in neonates with NEC
T or F
The fetal intestine DOES respond to bacterial components (ie - lipopolysaccharide) more robustly than does the mature intestine
TRUE
What organs are spared of iron deposition in GALD
Spleen
Lymph nodes
Bone marrow
What organs are affected by iron deposition in GALD
Pancreas Thyroid Heart ♥️ Adrenal glands Salivary glands (biopsy is safer and diagnostic)
Hormone most impt in regulating intestinal transit
Glucagon-like 2 peptide
Also impt in intestinal adaptation
Which is the most associated anomaly that affects survival
with esophageal atresia
♥️
Cardiac
How is Allagîlle syndrome inherited?
AD
Mutation in JAGGED 1 or NOTCH 1
Presents with: Neonatal cholestasis ♥️ - MC pulmonary stenosis Ocular posterior embryotoxin Renal anomalies Vascular anomalies (intracranial- 12%) Short
Markers seen with NEC
Increase in proteobacteria
Decrease in firmicutes (stool)
Fecal microbiotia is decreased
Name the syndrome:
CDH, abnormal fascies
Fryns Syndrome AR
CDH with abnormalities of the fingers and toes; distinctive facial features
Usually dont survive neonatal period
Coagulopathy Hypoglycemia Increased NH4, Increased ferritin Decreased albumin
What do these presenting signs indicate?
GALD
Also see - inc alpha feto protein, thrombocytopenia (due to increased iron) and inc TB/DB
What is the primary substrate used by enterocytes for intestinal adaptation?
Glutamine
Describe triad seen with Schwachman Diamond syndrome
Bone marrie failure (neutropenia, pancytopenia)
Pancreatic dysfunction
Récurrent infection
Skeletal anomalies (metaphyseal dysostosis and thoracic dystrophy)
Increased rusk
