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obophenotype / human-phenotype-ontology

Ontology for the description of human clinical features
http://obophenotype.github.io/human-phenotype-ontology/
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NTR: Liver biopsy: inclusion bodies (Lab: pathology: biopsies & morphology) #9060

Closed pnrobinson closed 3 months ago

pnrobinson commented 1 year ago

New term request Liver biopsy: inclusion bodies (f444): Hepatic biopsy

pnrobinson commented 9 months ago

@MickeySegal Is this a finding that is specific to the liver or are these "general" inclusion bodies? Please provide more contaxt

MickeySegal commented 9 months ago

In https://www.ncbi.nlm.nih.gov/books/NBK1519/ they seem to be described only in liver: "Liver pathology. AATD liver inclusions are visualized as bright pink globules of various sizes, using periodic acid-Schiff (PAS) stain following diastase treatment (PAS-D). The extent of inclusion formation varies considerably; the number and size of liver inclusions increases with age. Inclusions are not observed before age 12 weeks. Note: Liver biopsy, when indicated in the evaluation of individuals with liver disease, may show PAS positive diastase-resistant inclusion bodies which are suggestive of but not pathognomonic for AATD.

In infants with AATD, inclusions may be fine and granular and difficult to identify in percutaneous liver biopsy specimens. They are also observed in bile duct epithelium [Cutz & Cox 1979].

Liver inclusions indicate the presence of at least one PIZ allele; histologic examination of the liver cannot confidently distinguish between PIMZ heterozygotes and PIZZ homozygotes, although inclusions are generally more profuse in PIZZ homozygotes. Visualization of inclusions may be variable among PI*MZ heterozygotes."

pnrobinson commented 3 months ago

@MickeySegal Adding new term: