Peds Flashcards
Diff’l with failure to pass meconium
hirschsprung’s- treat with surgery
meconium plug syndrome- treat with rectal stim, enema
meconium ileus- enema with IV fluids, surgery (often with cystic fibrosis, ab distention)
anorectal malformation (absent anus, fistula, etc.)- dilatation, urgery
small left colon syndrome (transition zone at splenic flexure)- enema, rarely- colostomy
hypoganglionosis (transition zone)- medical, TPN, surgery
Genetic Syndrome
A syndrome is generally recognized and defined as a well-characterized constellation of major and minor abnormalities that occur together in a predictable fashion presumably due to a single underlying etiology which may be monogenic, chromosomal mitochondrial, or tetragenic in origin.
e.g. Trisomy 21, Klinefelter’s syndrome
Genetic Sequence
A sequence is a group of related anomalies that generally stem from a single initial major anomaly that alters the development of other surrounding or related tissues or structures
Potter’s sequence
Genetic Association
An association is a group of anomalies that occur more frequently together than would be expected by chance alone but that do not have a predictable pattern of recognition and/or a suspected unified underlying etiology.
VACTERL association
VACTERL association
vertebral anal anomalies cardiac Tracheo-esophageal fistula Renal anomalies limb anomalies
spectrum of anomalies with imperforate anus
high or low
can have low fistula, missing anus, etc.
high anomaly: rectum is up high in the pelvis. probably a fitula between GI and GU system and most important thing to take care of right away.
Cystic Fibrosis
Most common lethal genetic disease affecting Caucasians with an incidence of 1 in 2500 births
Follows autosomal recessive inheritance, however, even heterozygotes can have increased incidence of both pulmonary and pancreatic disease
The defect involves an epithelial chloride channel transporter encoded by the CTFR gene on chromosome 7q1.2
Over1300 mutations have been identified in the gene, the most common mutation is the deletion of 3 nucleotides coding for phenylalanine at position 508 (ΔF 508). This mutation occurs approximately 70% of the time
The 29 Clinical Presentations of CF
Meconium ileus Pancreatic insufficiency
Recurrent pulmonary infections Rectal prolapse
Intestinal impaction Liver cirrhosis Portal HT
Glucose intolerance Diabetes Pancreatitis
Vitamins A,E and K deficiency Night cramps
Hypoproteinemia with edema Lactase deficiency
Duodenal ulcer Cholelithiasis COPD
Cor pulmonale Asthma Nasal polyps
Hypertrophic pulmonary osteoarthropathy
Optic neuritis Salty taste to Mom Heat stroke
Hyponatremic dehydration Infertility in males
Pathophysiology of CF
Lack of adequate function of the transporter leads to decreased reabsorption of NaCl in sweat glands leading to the production of hypertonic sweat and hence the basis of the sweat chloride test.
In contrast to the sweat glands, in respiratory and intestinal epithelium, the transporter secretes Cl ion into the lumen. The defective transporter leads to decreased Cl- in the lumen leading to thick viscous secretions. The thickened secretions interfere with normal cilia transport of material away from the lung predisposing the individual to increased respiratory infections and in bowel interfering with absorption of nutrients across the bowel wall
Cystic Fibrosis Gene Mutational Classes
Class I: Defective protein synthesis
Class II: Abnormal protein folding, processing and trafficking-occurs almost 70% of the time
Class III: Defective regulation
Class IV: Decreased conductance
Class V: Reduced abundance
Class VI: Altered regulation of separate ion channels
Management of CF
Multidisciplinary team approach - Gastroenterologist - Pulmonologist - Nutritionist - Social worker Goal to provide appropriate calories Manage infection
Sweat Chloride test
over 60 supports CF, test again, if over 60 again then pretty positive.
kid with CF hasn’t passed meconium, what kind of imaging testing should we start with?
gastrographin enema (don’t want barium in the potential perforation). Check to make sure they are hydrated first with appropriate electrolytes.
often this is curative of the retained meconium, anyway
low set ears and macroglossia
think of genetic syndromes.
Beckwith Wiedemann syndrome
microcephaly, macroglossia, umibilical hernia
At birth large infants, weight averages 4,000 grams, length 53 cm
During neonatal period apnea, seizures and cyanosis common
Hypoglycemia is common
Feeding can be difficult because of large tongue
