RESUMEN
UNLABELLED: Congenital neutropenia in man was first reported 50 years ago by the Swedish paediatrician Rolf Kostmann. He coined the term "infantile genetic agranulocytosis" for this condition, which is now known as Kostmann syndrome. Recent studies have demonstrated a lack of antibacterial peptides and severe periodontitis in these patients despite recombinant growth factor treatment. Moreover, an increased degree of apoptosis of myeloid progenitor cells in the bone marrow has been shown. CONCLUSION: Future studies should aim to clarify the underlying molecular genetic defect in Kostmann syndrome.
Asunto(s)
Agranulocitosis/historia , Neutropenia/historia , Agranulocitosis/genética , Agranulocitosis/fisiopatología , Historia del Siglo XX , Humanos , Neutropenia/congénito , SueciaRESUMEN
UNLABELLED: The results in the main reports on infantile genetic agranulocytosis or Kostmann Syndrome are summarized. New views on the pathogensis of the syndrome are given in a recent paper by Pütsep et al. Kostmann syndrome may cause early onset Group B streptococcal neonatal sepsis as reported in this issue of Acta Paediatrica (9). CONCLUSION: Patients with Kostmann Syndrome who are successfully treated for agranulocytosis with serum colony stimulating factor remain deficient in cathelin-LL-37, a peptide antibiotic, which is normally present in neutrophils and saliva. This deficiency may explain that patients who are successfully treated for agranulocytosis continue to suffer from oral infections such as chronic periodontitis.
Asunto(s)
Agranulocitosis , Agranulocitosis/congénito , Agranulocitosis/historia , Agranulocitosis/terapia , Factor Estimulante de Colonias de Granulocitos/uso terapéutico , Historia del Siglo XX , Humanos , Lactante , Infecciones Estreptocócicas/complicaciones , Infecciones Estreptocócicas/historia , Streptococcus agalactiae , SíndromeAsunto(s)
Enfermedad , Adulto , Agranulocitosis/historia , Anemia Hipocrómica/historia , Niño , Brotes de Enfermedades/historia , Encefalitis/historia , Europa (Continente) , Femenino , Historia del Siglo XV , Historia del Siglo XVI , Historia del Siglo XVIII , Historia del Siglo XIX , Historia del Siglo XX , Humanos , Hiperhidrosis/historia , Hiperesplenismo/historia , Hipertensión Pulmonar/historia , Enfermedades Hipotalámicas/historia , Masculino , Enfermedad de Mikulicz/historia , Faringitis/historia , Intoxicación por Plantas/historia , Timo/anomalías , Estados UnidosRESUMEN
An attempt is made to show that the general practitioner can also diagnose agranulocytosis with greater probability with the simplest means--exact history with particular questioning on the abuse of drugs, determination of leukocyte count, evaluation of blood smears, searching for necroses in the skin and mucous membranes. Avoidance of abuse of drugs plays the most important part in prophylaxis. Thorough specific history is relatively the best, even if not sufficient, protection.