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19 Cards in this Set
- Front
- Back
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Tyrisinemia type 1
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-increased incidence in quebec
-liver - organ failure w cirrhosis, ascites, jaundice, bleeding tendency -kidney - enlargement, failure, tubular reabsorption problems (fanconi syndrome) -bones - rickets -CNS - neurologic crises (porphyria-lik) w any or all of - painful peripheral neuropathy, hypertension, rapid HR, arching, self-mutilation, weakness, paralytic respiratory failure -liver > kidney > rickets -defect in fumarylacetoacetate hydrolase, so fumarylacetoacetate builds up, gets converted to succinylacetone, excess succinylacetone causes phenotype (by blocking porphyrin pathway) -NBS - high succinylacetone in urine is more sensitive and specific than high tyrosine -tx: phen, tyr-restricted diet; NTBC (inhibits enzyme upstream); liver transplantation; kidney transplantation (only need for advanced kidney disease) -untreated - die from liver failure or cancer -treated - organ failure may still occur even w dietary changes. liver trasnplant is curative -AR, carrier and prenatal tesitng possible |
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diagnosis of homocystinuria?
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-NBS - high methionine (can also see high homocystine and methionine)
-low cystine in blood and urine -postnatal testing: markedly increased plasma homocystine and methionine -enzyme assay in leukocytes or fibroblasts to confirm diagnosis |
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treatment of homocystinuria?
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-methionine-restricted diet with extra cystine
-vitamins - 50% responsive to B6 -betaine - alternative way of converting homocystine to methionine |
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nonketotic hyperglycinemia
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-neuro phenotype -- profound hypotonia, lethargy, apnea, intractable seizures, myoclonic jerks, severe MR
-dx - elevated glycine in CSF (and usually in blood), increased CSF:blod glycine ratio; confirm by enzyme analysis in liver -devastating even with treatment |
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UCD on NBS
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-only citrullinemia and argininosuccinc acidemia
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sensitivity of screening for trisomy 21 at 5% FPR?
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quad - 76%
1st tri - 85-87% fully integrated - 94-7% sequential screening - 95% detection but 9% FPR (positive disclosed at 1st and 2nd tri) contingent (only middle group after 1st tri comes back for 2nd tri test) - 91%, 4.5% FPR |
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timing for amnio and CVS
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-amnio - after 15 weeks (though many say 16-18 weeks)
-CVS - 10 to 12 wk 6 days |
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timing for 1st tri screening and 2nd tri screening
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-1st tri - 10-14 weeks
-2nd tri - 15-18 (20? weeks) |
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NTD detection rates
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-AFAFP + ultrasound - 98% (all anencephaly)
-MSAFP (>2.5MoM) - 80% of NTD (90% o anencephaly) |
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causes of high MSAFP
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gestational age older than calculated (but only recalcuate risk if >1 week off)
spina bifida anencephaly skin defects - pilonidal cysts, abndominal wall defects GI defects - obstruction, liver necrosis, cloacal extrophy cystic hygroma sacrococcygeal teratoma renal anomalies - urinary obstruction, polycystic kidney, absent kidney, congenital nephrosis OI low birth weight oligohydroamnios multiple gestation decreased maternal weight |
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causes of low MSAFP
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gestational younger than expected
chromosomal trisomies hydatiform mole fetal demise increased maternal weight |
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at what gestational age can ultrasound assess fetal sex?
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>15 weeks
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causes of high AFAFP
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underestimate gestational age
fetal blood contaminaition fetal death twins fetal abnormaltieis - omphalocele, congenital nephrosis, unexplained variation in afp conc |
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breast ca risk ass'd with biopsy findings
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-atypical hyperplasia
----25% lifetime risk w/o fhx ----40% lifetime risk w fhx -LCIS -----25% risk of cancer - anywhere -DCIS -----30% risk of cancer at that spot, if untreated |
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VATER
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association
V-vertebral defects A-anal atresia TE - TE fistula R - radial or renal dysplasia VACTERL - + cardiac and limb malformations -no facial dysmorphology -differential is long b/c features are not v. specific -good prognosis for intelligence |
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what percent of ooctyes are aneuploid?
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25%
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read the question!
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re-read the question after answering!
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cause of CMT1A
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duplication of PMP22 at 17p11.2
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cause of HNPP
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deletin of PMP22 at 17p11.2
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