[PAGID] Chediak Higashi pt-Update

[Sergio Rosenzweig]

Dear Colleagues,
This is an update. More than a year ago I asked your opinion about a 2y5m old mild CHS pt (email attached below). At that time your responses were divided half-and-half between going forward and do MUD BMT on one side, and a wait-and-see approach, on the other. We decided to follow the last one. The pt had an unevenful year and she leads a normal life. Now the only difference is that we know her LYST mutation: she is a compound heterozygous for 2 null mutations (gently done at the NHGRI, NIH by Dr. Gahl and Dr. Huizing). 
 
Do you think that knowing her mutations (usually associated with accelerated phase in CHS pts) should modify our decission of wait- and-see? Or, in other words, how frequently (if ever) our clinical behaviors should be influenced by a presumed or real genotype-phenotype correlation? 
Regards,
 
Sergio
 
Sergio D. Rosenzweig, MD
Servicio de Inmunologia
Hospital Nacional de Pediatria "J. P. Garrahan"
Buenos Aires, Argentina
srosenzweig at garrahan.gov.ar 
 
Dear Colleagues, 
Since a month ago we are following a 2y5m old female pt with CHS (mild partial oculocutaneous albinism, giant granules in neutrophils and neutrophils, abnormaly distributed small clumps of melanin along the hair shaft, diminished but not abolished NK activity). The pt is the 2nd child born to a healthy non consanguineous young couple and her elder brother in not affected. The pt have had NO severe infections, hemorragic diathesis, neutropenia or, more importantly,accelerated phases (actually, diagnosis was absolutely serendipitous because of a blood smear in the context of 
mild anemia control -Hb 10gr/dL-). Neurological examination showed VERY MILD hypotonia and hyporreflexia (MRI in course). Family HLA typing is also in course. I'm not aware of any group currently 
doing CHS mutation detection that could help us with the 
genotype-phenotype correlation. 
Question is: In this context (very mild disease, no accelarated phases so far) would you indicate BMT now or follow her very closely with everything ready in the case she developes an accelareted phase? 
Thanks in advance 

Sergio D. Rosenzweig, MD 
Servicio de Inmunologia 
Hospital Nacional de Pediatria "J. P. Garrahan" 
Buenos Aires, Argentina 
srosenzweig at garrahan.gov.ar 




		
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