Niemann-Pick disease laboratory findings: Difference between revisions
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Gerald Chi (talk | contribs) Created page with "__NOTOC__ {{Niemann-Pick disease}} {{CMG}} ==Overview== ==Laboratory Findings== ==References== {{Reflist|2}} {{WH}} {{WS}}" |
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__NOTOC__ | __NOTOC__ | ||
{{Niemann-Pick disease}} | {{Niemann-Pick disease}} | ||
{{CMG}}; {{AE}} | |||
{{CMG}} | |||
==Overview== | ==Overview== | ||
The definitive diagnosis of Niemann–Pick type C requires the demonstration of abnormal intracellular cholesterol trafficking. The filipin test is currently the most sensitive and specific assay, and is the key diagnostic test for Niemann–Pick type C before going further into genetic testing.<ref name="Kheder-2013">{{Cite journal | last1 = Kheder | first1 = A. | last2 = Scott | first2 = C. | last3 = Olpin | first3 = S. | last4 = Hadjivassiliou | first4 = M. | title = Niemann-Pick type C: a potentially treatable disorder? | journal = Pract Neurol | volume = | issue = | pages = | month = Aug | year = 2013 | doi = 10.1136/practneurol-2013-000525 | PMID = 23906593 }}</ref> | |||
==Laboratory Findings== | ==Laboratory Findings== | ||
===Diagnostic Algorithm for Niemann-Pick Disease=== | |||
{{Family tree/start |summary=Diagnostic Algorithm for NP-C}} | |||
{{Family tree | | | | | | | | | | | | | | | | | | | | | A01 | | | | | | | | | | | | | | | | | | | | | | | | | | | A01 = Skin biopsy}} | |||
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{{Family tree | | | | | | | | | | | | | | | | | | | | | B01 | | | | | | | | | | | | | | | | | | | | | | | | | | | B01 = Filipin test}} | |||
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{{Family tree | |,|-|-| C01 | | | | | | C02 |-|-|-|.| | | | | | | | | | C03 | | | | | | C04 | | | | | | | | | | | | C01 = Highly positive | C02 = Moderately positive | C03 = Difficult interpretation | C04 = Clearly negative }} | |||
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{{Family tree | |!| | | | | | | |!| | | | | | | | |`|-|-|-|-|v|-|-|-|-| D02 | | | | | | D03 | | | | | | | | | | D02 = Reassess clinical features | D03 = a priori, not NP-C}} | |||
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{{Family tree | |!| | | | | | | D01 | | | | | | | | | | | | D04 | | | | | | | | | | | | | | | | | | | | | | | |D01 = Kinetics of LDL-induced cholesteryl ester formation | D04 = NPC1 mutation p.P1007A and codon 992}} | |||
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{{Family tree | | | | | | | | | |!| | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |}} | |||
{{Family tree | | | | | | | | | E01 | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | E01 = Sequencing opf NPC1 and NPC2 gene}} | |||
{{Family tree | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |}} | |||
{{Family tree/end}} | |||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
[[Category:Endocrinology]] | |||
[[Category:Neurology]] | |||
[[Category:Needs overview]] | |||
{{WS}} | |||
{{WH}} | {{WH}} | ||
Latest revision as of 16:33, 25 July 2016
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
The definitive diagnosis of Niemann–Pick type C requires the demonstration of abnormal intracellular cholesterol trafficking. The filipin test is currently the most sensitive and specific assay, and is the key diagnostic test for Niemann–Pick type C before going further into genetic testing.[1]
Laboratory Findings
Diagnostic Algorithm for Niemann-Pick Disease
| Skin biopsy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Filipin test | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Highly positive | Moderately positive | Difficult interpretation | Clearly negative | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Reassess clinical features | a priori, not NP-C | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Kinetics of LDL-induced cholesteryl ester formation | NPC1 mutation p.P1007A and codon 992 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sequencing opf NPC1 and NPC2 gene | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||