[CIS PIDD] [cis-pidd] AW: 16y old pt with CD40L and nephropathy

[CIS-PIDD]

Dear colleagues,

can you please delete this mail? By mistake it was sent with the patient's name.

Thank you very much in advance for your help.

Best wishes,
Janine Reichenbach


Prof. Dr. med. Janine Reichenbach
Co-Leitung Abteilung Immunologie

Jeffrey Modell Diagnostic and Research
Centre for Primary Immunodeficiencies

Universitäts-
Kinderspital Zürich - Eleonorenstiftung
Steinwiesstrasse 75
CH-8032 Zürich

Telephon + 41 44 266 78 15
Telefax   + 41 44 266 79 14
janine.reichenbach at kispi.uzh.ch<mailto:janine.reichenbach at kispi.uzh.ch>
http://www.kispi.uzh.ch/de/zuweiser/fachbereiche/immunologie/Seiten/default.aspx

DAS SPITAL DER ELEONORENSTIFTUNG


Von: Felber Matthias
Gesendet: Donnerstag, 13. April 2017 17:27
An: 'cis-pidd at lists.clinimmsoc.org' <cis-pidd at lists.clinimmsoc.org>
Cc: Reichenbach Janine <Janine.Reichenbach at kispi.uzh.ch>; Guengoer, Tayfun <Tayfun.Guengoer at kispi.uzh.ch>
Betreff: 16y old pt with CD40L and nephropathy

Dear Colleagues.

On behalf of our pediatric immunolgy team here in Zurich I am writing you to gather additional input concerning a 16 y old patient with CD40L-deficiency who has been diagnosed in Hans Ochs' lab (see attached report). He and his family have quite a "mountaineer-spirit". After having 2x PCP with age 3 and 4 they refused to take prophylaxis and although having found a matching unrelated donor they refused HSCT, but agreed to IVIG and later scIG. Under that with good IgG levels so far he got away quite well with no severe infections thereafter until January this year when typical HUS with verotoxine-producing E.coli was diagnosed. Since 2-3 years before he already had little proteinuria. After restoring PLT he continued with nephropathy in form of high proteinuria 3-5g/l, polyserositis/edema without hints of inflammation, very high arterial hypertension (5-6 anti-hypertensive medications) hinting towards nephropathy/glomerulonephritis, kidney biopsy planed.

Questions:

1.    Most important: Do you know of any other case of renal impairment/nephropathy/glomerulonephritis in a patient with CD40L? (we could only find a case in japan in a paper in Japanese from 1985 and another one from hans ochs in an initial report of dysgammaglobuinemia in the 1960 with a much shorter self-limiting clinical course)


2.    Immunosuppression in CD40L deficiency: Would you have a tendency towards either calcineurin inhibition or mTOR inhibition or Rituximab? Or something else?



3.  For future planning: Anyone with experience concerning combined HSCT / kidney/other organ tx in PID/t-cell defects ?

Thanks in advance,
Kind regards,
Matthias

Dr. med. Matthias Felber
Immunologie/Stammzelltransplantation
Vertretung Dr. Seraina Prader
Universitäts-
Kinderspital Zürich - Eleonorenstiftung
Steinwiesstrasse 75
8032 Zürich

Tel: +41 (0)44 266 70 98


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