Welcome to Scribd, the world's digital library. Read, publish, and share books and documents. See more
Download
Standard view
Full view
of .
Look up keyword
Like this
1Activity
0 of .
Results for:
No results containing your search query
P. 1
Porphyrias • a Group of Inborn Error of Metabolism, With

Porphyrias • a Group of Inborn Error of Metabolism, With

Ratings: (0)|Views: 23|Likes:
Published by hollyu

More info:

Published by: hollyu on Nov 19, 2009
Copyright:Attribution Non-commercial

Availability:

Read on Scribd mobile: iPhone, iPad and Android.
download as DOC, PDF, TXT or read online from Scribd
See more
See less

05/11/2014

pdf

text

original

 
 Porphyrias
A group of inborn error of metabolism, with defect in heme synthesis
Complete deficiency of enzymes is incompatible with life
Deficiency of one enzyme will lead to accumulation of one or moreintermediates molecules which will give the clinical manifestation of Porphyria.
The rate-limiting step in heme synthesis is the conjugation of succinyl-CoAwith glycine to form D-aminolevulinic acid ALA (the enzyme is aminolevulinicacid synthetase).
generally manifest after puberty. Inheritance is an AD pattern,
 but congenital erythropoietic porphyria is inherited as an AR pattern.
A functional classification for the anesthesiologist is based on a division of the porphyrias into:
o
 
 Inducible
: acute symptoms are precipitated on drug exposure, which are:
Acute intermittent Porphyria
variegate Porphyria ( 80% photosensitive)
hereditary coproporphyria
o
noninducible
forms.
 
The other classification is
hepatic
and
erythropoietic
, where the hepaticincludes all the inducible plus
 Porphyria cutanea tarda
which can present with
epidermolysis bullosa.
Drugs that can provoke an acute attach are:
o
Sedatives
Barbiturates, Hypnotics chlordiazepoxide, glutethimide,diazepam
o
Analgesics
Pentazocaine, antipyrine, aminopyridine, Lidocaine
o
Anticonvulsants
Phenytoin, methsuximide
o
Antibiotics
Sulfonamides, chloramphenicol
o
Steroids
Estrogens, progesterone
o
Hypoglycemic Sulfonylureas
Tolbutamide, chlorpropramide
o
Toxins
Lead, ethanol
o
Miscellaneous
Ergot preparations Amphetamines Methyldopa
Other things that can provoke an acute attach are: fasting, dehydration,infection
so consider glucose containing solution intra-op, and keep then wellhydrated.
 Acute intermittent Porphyria:
o
Is the most serious form of hepatic Porphyria
o
Clinical manifestation:
 
Severe abdominal pain with N&V
electrolytes imbalance
CNS symptoms: Psychoses, SIADH, CN involvement
bulbar muscle paresis
aspiration
ANS
orthostatic hypotension, HTN, tachycardia.
Phrenic nerve
hypoventilation
o
Treatment:
Hematin, Pyridoxine, hydration, glucose, and correctelectrolytes abnormalities.
 Porphyria cutanea tarda
:
o
May associated with
epidermolysis bullosa.
o
 No considerations regarding drugs
o
They may have hepatocellular necrosis due to accumulation of prophyrin
so consider LFT, and be caution with drugs that are metabolized by theliver.
 Erythropoietic Porphyria:
o
Which includes uroporphria and protoporphyria, the later is more common
o
 No considerations regarding drugs
o
 No CNS manifestations
o
They are photosensitive

You're Reading a Free Preview

Download
scribd
/*********** DO NOT ALTER ANYTHING BELOW THIS LINE ! ************/ var s_code=s.t();if(s_code)document.write(s_code)//-->