Periodontal disease in patients from the original Kostmann family with severe congenital neutropenia.
BACKGROUND
Patients with Kostmann syndrome (severe congenital neutropenia [SCN]) typically normalize their absolute neutrophil count (ANC) upon granulocyte colony-stimulating factor (G-CSF) therapy. However, although they no longer experience life-threatening bacterial infections, they frequently still have recurrent gingivitis and even severe periodontitis, often starting in early childhood.


METHODS
We studied the periodontal disease in the four surviving patients belonging to the family originally described by Kostmann. Their odontological records, x-rays, color photos, bacterial cultures, serum antibodies to oral bacteria, and histopathological examinations were reviewed. The data were also correlated to previous investigations on their antibacterial peptides and molecular biology.


RESULTS
Three patients had periodontal disease, despite normal ANC and professional dental care, and had neutrophils deficient in antibacterial peptides. One of these patients also had a heterozygous mutation in the neutrophil elastase gene, had severe periodontal disease and overgrowth of the periodontal pathogen Actinobacillus actinomycetemcomitans in the dental flora, and 15 permanent teeth had been extracted by the age of 27. One bone marrow-transplanted patient had no periodontal disease.


CONCLUSIONS
Normalized ANC levels are not sufficient to maintain normal oral health in SCN patients, and because neutrophils are important for first-line defense and innate immunity, the deficiency of the antibacterial peptide LL-37 probably explains their chronic periodontal disease. Professional dental care is still important for SCN patients, despite treatment with G-CSF and normal ANC levels. Whether antibacterial peptides play a role in the pathogenesis of periodontitis in other patients remains to be elucidated.
Carlsson
Göran
G
Childhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska University Hospital, Karolinska Institute, Stockholm, Sweden. goran.carlsson@ki.se
Wahlin
Ylva-Britt
YB
Johansson
Anders
A
Olsson
Anders
A
Eriksson
Torbjörn
T
Claesson
Rolf
R
Hänström
Lennart
L
Henter
Jan-Inge
JI
D000293:Adolescent; D016976:Aggregatibacter actinomycetemcomitans / Q000302:isolation & purification; D010520:Aggressive Periodontitis / Q000209:etiology* / Q000382:microbiology; D000907:Antibodies, Bacterial / Q000097:blood; D023181:Antimicrobial Cationic Peptides / Q000172:deficiency / Q000235:genetics; D002648:Child; D003773:Dental Plaque / Q000382:microbiology; D005260:Female; D005891:Gingivitis / Q000209:etiology* / Q000382:microbiology; D016179:Granulocyte Colony-Stimulating Factor / Q000627:therapeutic use; D006801:Humans; D007223:Infant; D019272:Leukocyte Elastase / Q000235:genetics; D008297:Male; D009154:Mutation; D009503:Neutropenia / Q000150:complications* / Q000151:congenital* / Q000188:drug therapy; D011994:Recombinant Proteins; D013577:Syndrome; D054804:Cathelicidins
D000907:Antibodies, Bacterial; D023181:Antimicrobial Cationic Peptides; D011994:Recombinant Proteins; D016179:Granulocyte Colony-Stimulating Factor; D019272:Leukocyte Elastase; D054804:Cathelicidins