[CIS PIDD] [cis-pidd] question about dysuria in a CVID patient

[Seppänen Mikko]

Totally agree with Dewton,

one possibility would also be AID deficiency (given her renal insuff, GN?) or some other CSRD or the highly variable ICF sdr, as well as all recently published hypomorphic SCID-forms, I would also check if she has a microdeletional sdr (CGH test), or does she have Kabuki? Or even the newly described(S)CIDs IKBKB, CARD11, TPP2 spring to mind…

mikko

Mikko Seppänen, MD PhD
Helsinki

Lähettäjä: dmvascon at usp.br [mailto:dmvascon at usp.br]
Lähetetty: 10. kesäkuuta 2013 18:33
Vastaanottaja: CIS-PIDD
Aihe: Re: [cis-pidd] question about dysuria in a CVID patient

Hi Yae-Jean

She seems too sick for a CVID patient.
Did you check for a possible STAT5b mutation? Maybe ADA deficiency?
Does she have autoantibodies? Does she present any bladder malformation? granulomas?
What about the possibility of a mycobacteriosis?

Best,

Dewton

Dewton de Moraes Vasconcelos, MD; PhD
University of São Paulo School of Medicine


________________________________
De: "YaeJean Kim" <yaejeankim at skku.edu>
Para: "CIS-PIDD" <cis-pidd at lists.clinimmsoc.org>
Enviadas: Segunda-feira, 10 de Junho de 2013 11:52:26
Assunto: [cis-pidd] question about dysuria in a CVID patient
Dear All,

I have a 14 yo girl with CVID on IVIG replacement therapy every 3 weeks.
She has multiple conditions as below.
- s/p CMV infection diagnosed at outside hospital.
- A huge splenomegaly for which she received splenectomy -> amoxacillin prophylaxis
- Chronic kidney disease stage 4
- Hypertension
- Short stature, delayed puberty
- interstitial pneumonitis responded to steroid and now off

The reason that I am writing is about significant dysuria and urinary frequency. Multiple urine cultures did not grow anything.
But she complains of severe waxing and waning pain.

This time, she was rolling in the bed because of pain in the suprapubic area/perineum and fever. At ER, UA showed LE+++, numerous WBC/ HPF but gram stain and routine urine culture grew nothing. Cefotaxime was started empirically and the fever is gone, the pain is reduced (I am not sure whether it was truly due to cefotaxime effect or not)...Anyway, she got somewhat better but still complains of sudden pain that requires pain meds on and off.
Image studies showed no definite stones..

Urology and nephrology have seen her but no clear idea. To her, this is a significant symptom that bothers her daily life.
At this point, I would appreciate any suggestion or advice.

Sincerely,

YaeJean

-------------------------------------------------
Yae-Jean Kim, MD, PhD
Associate Professor
Division of Infectious Diseases
Department of Pediatrics
Sungkyunkwan University School of Medicine
Samsung Medical Center
50 Irwon-dong Gangnam-gu
Seoul, Korea
Tel)  +82-2-3410-3539, 0987  Fax) +82-2-3410-0043
yaejeankim at skku.edu<mailto:yaejeankim at skku.edu>

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