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18 Cards in this Set
- Front
- Back
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what are some markers of in-utero pulmoanry development?
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fetal ultrasound-
chest circumference (chest to abdomen ratio) respiratoy rate-should be irregular amnionic fluid-lecithin to sphingomyelin ratio --increases with greater lung maturity as lecithin rich surfactant production increases |
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primary pulmonary hypoplasia
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bronchus is fully formed but reduced in size with failure of alveolar development
-can be partial or complete -due to HOX gene mutation |
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restriction to lung growth
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internal compression:
congenital diaphramatic hearnia intrathoracic mass severe abdominal distention external compression: thoracic dystrophy uterine malformation |
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decreased fetal breathing
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-severe CNS defects
-Neuromuscular diseases |
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oligohydramnios
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too little amniotic fluid
decreased fetal output (potters sequence) decreased fluid production increased amniotic fluid loss |
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congenital diaphragmatic hernia
cause by? |
cause by internal compression
-stomach, portion of small and large intestines, and upper lobe of kidney may herniate through defect into pleural cavity and ascent to apex of chest->pushed through by (-) intrathoracic pressure -results in cyanosis, dyspnea, and tachycardia Dx: made by CXR results from: foreman Bochdalek mostly occur on left side since liver seems to be a good border on the right -results in: ipsilateral pulmonary hypoplasia (via internal compression) Isolated CDH 50% have other anomalies known as syndromes examples of syndromes: Fryns syndrome Donnal-barrow syndrome trisomy13/18 almost universally fatal |
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thoracic dystrophies example of external compression
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Spondylocostal dysostosis
(Jarcho-levin syndrome): extreme shortening of thorax and trunk malformation of ribs and vertebrae infants have short necks and short stature respiratory insufficiency -prone to respiratory infections -verbetrae are fused and ribs fail to develop properly->chest too small to accomodate lungs AR, lethal form, gene DLL3 absent ribs |
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thoracic dystrophies examples of external compression
Jeun;es asphyxiating thoracic dystrophy |
related to spondylocoastal dysostosis
but all ribs are present AR, lethal form, gene? |
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external compression:
skeletal dysplasia |
thanatophoric dwarfism:
narrow thorax short limbs large head severe respiratory insufficiency lethal, AR due to mutation in fibroblast GF receptor 3 gene |
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decreased respiration fetal hypo-/akinesia:
spinal muscular atrophy type I |
aka werdnig-hoffman
Myopahty and areflexia pulmonary hypoplasia lethal (infants succumb to pulmonary infections) AR SMN1-survial motor neuron mutation decreased lung volumes no wrinkles |
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decreased respiration fetal hypo-/akinesia
pena shokeir (AMC) |
often still born
muscle atophy CNS anomalies pulmonary hypoplasia reflex presnt lethal AR |
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Oligohdramnios
pooters sequence |
decreased amniotic fluid of any cause
-squishing fetus potters sequence: oligohdramnios positional deformation of ace and extremities -renal involvement -pulmonary hypoplasia |
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congenital alveolar capillary dysplasia
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normal appearing newborn
cant oxygenate rapid progression to death despite max ventilatory support pul a dont run w/ bronchioles -persistant pulmonary HTN |
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surfactant Protein B deficiency
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pulmonary alveolar proteinosis
severe respiratory insufficincy in full term neonates CXR: bilateral pulmonary infiltrates with hilar prominance progressing to fibrosis and honeycombing not responsive to surfactant lethal, AR, SFTPB mutation distinct form RDS |
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RDS
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is responsive to surfactant
polymorphism in SFTPA gene |
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alpha-1-antitrypsin deficiency
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AR
lead to COPD and cirrhosis of liver locus on chr. 14 is expressed principally in liver acts in the lung -binds to and inhibits elastase esp. elastase released from PMN in lower resp tract -protects lung parenchyma from neutrophil elastase induced damage -Z allele very common: slows rate of elastase inhibition -normal level >80 mg/dl false - during illness(will raise level) -presence of stored alpha-1-AT in liver believed to be responsible for dz -deficiency leads to panacinar emphysema and hepatits and cirrhosis-follow LFT smoking believed to oxidize Meth 358active site of AAT thus decreasing its affinity for elastase 2000 fold |
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prolastin
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enzyme replacement of AAT
indicated if AAT level <80 mg/dl and FEV1<80 |
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cystic fibrosis
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AR
gene called CFTR on chr 7q31->mutation is deletion of Phl at position 508 -->it regulates chlorine channel located in apical membrane of the epithelium cells affected by dz -CF due to abnormal electrolyte transport across epithelial apical membrane lungs and exocrine pancrease major organs effects major diagnostic feature is increased Na and Cl in sweat deficiency of pancreatic enzymes lipase, trypsin, chymotrypsin prevent normal digestion -genital tract effected leading ot infertility-men lack vas deferens |
