[CIS PIDD] [cis-pidd] Asymptomatic CK of 25, 000 U/L in XLA - OTHER DX?

[CIS-PIDD]

Great discussion here

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4871266/#!po=18.2927
Kate Sullivan
Sent from my iPhone

On Sep 8, 2017, at 4:36 PM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> wrote:


Hello everyone, thoughts about DRAMATICALLY ELEVATED CK in asymptomatic young man with XLA (other than the obvious myositis)?


19 year-old young man with XLA.  'Low flyer' until a few years ago  when noted creatine kinase (CK) of 25,000 U/L (REF. 24-200) about 4 years ago (modestly elevated transaminases led to this finding).  Interestingly then (and presently) he has had NO symptoms of fatigue, weakness, myalgia; exam has revealed NO evidence of muscle wasting or atrophy; skin and nail exam is unremarkable.


** MY QUESTION ** :  any other considerations outside myopathy (including lab error, interfering substances, etc.) that would result in persistently and (intermittently dramatically elevated) CK FOR SEVERAL YEARS in an asymptomatic young man??    CK 25K a few years ago; nadir of 3,000 U/L for several years and recent peak again to >25,000 U/L.


Only remarkable labs have been CK; modestly increased ALT/AST both hovering in 90s; aldolase  of 23 (and low 20s; ref. " < 14.5 U/L"); modest thrombocytosis


UNREMARKABLE(!) LABORATORY STUDIES: EKG; echo;  ESR; CRP; GGT; CBC; TSH/T4/T3; U/A; urine myoglobin; troponin; EBV/CMB/PARVO PCR; urine organic acids; serum amino acids; CBC; electrolytes.   Genetic testing for dystropin mutation unremarkable as was screening for

AGAT  and GAMT deficiency.

Consultants have include neuromuscular/metabolic specialists.  Family is consistently reluctant to schedule open muscle biopsy, primarily because he is asymptomatic.

An obvious next step in his workup is open muscle biopsy and associated studies as recommended by neurology/metabolics.  Just wondering if there is additional considerations or alternative explanations.

thank you!

-jason

jason raasch, md
Midwest Immunology Clinic
Plymouth, MN


---

You are currently subscribed to cis-pidd as: sullivank at email.chop.edu<mailto:sullivank at email.chop.edu>.

To unsubscribe click here: http://cts.dundee.net/u?id=99424140.0252c6305bcec2418e0f99fbf64e026c&n=T&l=cis-pidd&o=4565444

(It may be necessary to cut and paste the above URL if the line is broken)

or send a blank email to leave-4565444-99424140.0252c6305bcec2418e0f99fbf64e026c at lyris.dundee.net<mailto:leave-4565444-99424140.0252c6305bcec2418e0f99fbf64e026c at lyris.dundee.net>

---
You are currently subscribed to cis-pidd as: pagid at list.clinimmsoc.org.
To unsubscribe click here: http://cts.dundee.net/u?id=96396833.5a9591ccd1e327fe6bc4d1543298c482&n=T&l=cis-pidd&o=4565522
or send a blank email to leave-4565522-96396833.5a9591ccd1e327fe6bc4d1543298c482 at lyris.dundee.net
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <https://pairlist7.pair.net/pipermail/pagid/attachments/20170908/08f6cf7a/attachment-0001.html>