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Kydd - Pathophysiology 2 > Infant Disorders > Flashcards

Infant Disorders Flashcards

1
Q

What are the six disorders covered in Infant Disorders?

A

Cleft Lip, Cleft Palate, Pyloric Stenosis, Gastroesophageal Reflux, Hirschsprung Disease, Intussesception.

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2
Q

What is cleft lip?

A

Cleft lip is a congenital abdnormality which is characterized by an indentation or fissure where the tissues in the baby’s face does not fuse properly.

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3
Q

T or F: Cleft Lip can occur bilaterally?

A

TRUE

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4
Q

What causes Cleft Lip?

A

Cleft lip is a congenital abdnormality which occurs due to a teratogen. Examples of teratogens are smoking, viral infections, or a folic acid deficiency.

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5
Q

What is the importance of folic acid in the proper development of babies?

A

Adequate folic acid aid in proper DNA synthesis and neural tube development.

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6
Q

What is the incidence rate of cleft lip?

A

Roughly 1 in 700.

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7
Q

When is the “critical period” of cleft lip development?

A

During the 5 - 8th week of fetal development.

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8
Q

Which two structures do not properly fuse when an infant has cleft lip?

A

The maxillary and nasal structure.

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9
Q

What other disorder usually occurs in conjunction with cleft lip?

A

Cleft Palate often occurs with cleft lip.

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10
Q

What is cleft palate?

A

Cleft palate is the incomplete fusion of palatine structure, often with a hole in the roof of the mouth into the nose.

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11
Q

What teratogen is strongly linked to cleft palate?

A

Smoking during pregnancy

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12
Q

What is the incidence rate of cleft palate?

A

Rougly 1 in 2000 births

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13
Q

What is the treatment for cleft palate?

A

Surgery, in conjunction with speech therapy.

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14
Q

What is Pyloric Stenosis?

A

Pyloric stenosis is a funtional problem where a hardening/narrowing of the distal part of the stomach (the pyloric spincter) opens to the duodenum.

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15
Q

When is pyloric stenosis most commonly seen in infants?

A

2 - 8 weeks after birth

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16
Q

What are some common pathologic characteristics of pyloric stenosis?

A

Muscle hypertrophy, Constriction at the Pylorus (spasms).

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17
Q

What does muscle hypertrophy mean?

A

Muscle hypertrophy is when the muscle cells increase in size. They do not increase in number because muscle cells cannot proliferate, only get bigger.

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18
Q

What is the incidence rate of pyloric stenosis?

A

Roughly 1 in 1000

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19
Q

What is the male:female incidence rate ratio of pyloric stenosis?

A

Four:One

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20
Q

What is the etiology of Pyloric stenosis?

A

The cause of pyloric stenosis is idiopathic although it is linked to hypergastrinemia, decreased levels of PGE, and erythromycin exposure.

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21
Q

What is hypergastrinemia, and why would infants be experiencing it when diagnosed with pyloric stenosis?

A

Hypergastrinemia is the presence of an excess of gastrin in the blood. Gastrin is a hormone responsible for the production of stomach acid. With pyloric stenosis there is an increase in HCl secretion due to stenosis. Thus HCL might not pass into the duodenum and accumulate with-in the stomach.

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22
Q

What is PGE? Why is PGE found linked to pyloric stenosis?

A

Prostaglanin E. It is linked to pyloric stenosis because PGE insufficiency is linked to decreased GI motility, and enhanced obstructive changes.

23
Q

What is erythromycin exposure?

A

Erythromycin is an antibiotic. There is an eight-fold increased risk of pyloric stenosis if an infant is exposed to erythromycin at a very early age (Between 3 and 13 days old).

24
Q

What is the pathophysiology of pyloric stenosis?

A

Hypertrophy of pyloric spincter - Constriction - Inflammatin at sight of constriction - Obstruction.

25
Q

What are several manifestations of Pyloric Stenosis?

A

Projectile Vomiting, Dehydration, Malnourishment

26
Q

How is pyloric stenosis diagnosed?

A

Diagnosis is made through careful history, physical examination, and ultrasound.

27
Q

Is pyloric stenosis palpatable?

A

Yes. Pyloric stenosis can be felt through palpation of the abdomen as a mass in the epigastrium.

28
Q

What is treatment for pyloric stenosis?

A

Surgery, called a pyloromyotomy which involves cutting through the thickened muscles of the pylorus which are then spread and relaxed.

29
Q

What is gastroesophageal reflux?

A

Gastroesophageal reflux is a functional problem in infants which is characterized with frequent and recurrening vomiting, refusal to eat, abdominal pain and colicky behaviour.

30
Q

Is Gastroesophageal Reflux a common problem in infants? What is the incidence rate of GERD in infants? What is the most common age of infants which suffer from GERD?

A

Yes, it is a common problem. There is a 50% incidence rate in infants 0 - 3 months of age.

31
Q

What is the etiology of Gastroesophageal Reflux?

A

GERD has a neuromuscular etiology.

32
Q

What sphincter is involved with infant GERD?

A

It is reflux via the distal esophageal sphincter.

33
Q

What is the pathophysiology of gastroesophageal reflux in infants?

A

Gastric contents enter the esophagus causing esophagitis

34
Q

Why would gastroesophageal reflux in infants cause growth problems?

A

The infant will not want to feed because it is painful. The infant may also gag or choke when attempting to feed.

35
Q

Is infant GERD self-limiting? If so, when does disorder typically resolve?

A

Yes, it is self limiting. Typically, with-in a year.

36
Q

What are the three possible treatments for infant GERD?

A

Symptomatic treatment, Modification to feeding, Fundoplication

37
Q

What are specific symptomatic treatments for infant gastroesophageal reflux?

A

This treatment would be the same as an adult. The child will be put on a proton pump inhibitor, an antacid, and an H2RA. The idea is to stop esophagus erosion. Life-style modifications can also occur such as infant positioning and behavioural changes.

38
Q

How would you modify the feeding habits when treating gastroesophageal reflux in infants?

A

You would feed the infant smaller amounts and thicken any formula or milk that the infant is receiving. Thickening and giving smaller amounts helps to keep the reflux down.

39
Q

What is the purpose of a fundoplication in infant GERD?

A

Fundoplication fortifies the spincter and thus limits the reflux.

40
Q

What is Hirschsprung Disease?

A

Hirschsprung is a genetic problem where the areas of the colon lack a parasympathetic ganglia restricting local peristalsis.

41
Q

What is a parasympathetic ganglia?

A

A parasympathetic ganglia are autonomic ganglia which are terminal ganglia because they lie near of in the organs which they innervate.

42
Q

What is the incidence rate of Hirschsprung disease?

A

1 in 5000 births.

43
Q

What is the indentified defective gene and chromosone in Hirschsprung disease?

A

It is a RET gene mutation on Chromosome 10.

44
Q

What is an RET gene? What infant disease is it implicated in?

A

An RET gene is a protein coding gene which is involved in many cellular mechanisims including cell proliferation, cell migration and cell differentation.

45
Q

What is the consequence of a defective RET gene in Hirschsprung disease?

A

The RET mutation causes proteins to form and signal leading to the formation of tissues. However, no parasympathetic ganglia is formed which inervates the colon and it’s peristalisis.

46
Q

What is the pathophysiology of Hirschsprung disease?

A

Areas of the colon lack a parasympathetic ganglia resulting in no local peristalsis. Due to no peristalsis there is an accumulation of contents in the colon leading to colon distention and then abdominal distention.

47
Q

How is Hirschsprung diesease treated?

A

The aganglionic segment is removed, and the bowel is reattached post removal.

48
Q

What is Intussusception?

A

Intussusception is when one section of the intestine invaginates into an adjoining part.

49
Q

Where does intussusception most commonly occur? Why is this the most common location?

A

The Ileocecal valve. Intussusception occurs here because the smaller diameter small intestine joins the large intestine at this valve.

50
Q

What is the incidence rate of intussusception in infants?

A

1-4 in every 1000 births

51
Q

What is the pathophysiology of Intussusception?

A

Invagination resulting in obstruction, inflammation, edema, and ischemia.

52
Q

What is the worst case, end-result of Intussusception?

A

Necrosis, perferation and peritonitis is possible.

53
Q

How is intussusception treated? Explain the process?

A

Intussusception is treated with hydrostatic reduction. This is when a water soluble contrast medium and air pressure is pumped into the bowel, “unfolding” the invagination. Some cases of Intussusception require surgery.

Kydd - Pathophysiology 2 (22 decks)

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