Kostmann syndrome

From Wikipedia, the free encyclopedia

Kostmann syndrome Classification and external resources
ICD-10	D70.
ICD-9	288.01
OMIM	202700
DiseasesDB	29519
eMedicine	ped/1260

Kostmann syndrome also known as Severe Congenital Neutropenia (SCN) is a rare inherited form of Severe Chronic Neutropenia usually detected soon after birth. It was discovered in 1956 by Swedish doctor Kostmann.^[1]

Contents 1 Diagnosis 2 Morphology 3 Pathophysiology 4 References 5 See also 6 External links

[edit] Diagnosis

An absolute neutrophil count (ANC) chronically less than 500/mm3 is the main sign of Kostmann's. A standard bone marrow test can give correct diagnosis.

[edit] Morphology

Bone marrow usually shows the presence of early granulocytes (promyelocyte/myelocyte arrest) but few maturing forms are seen; neutrophil survival is normal.

[edit] Pathophysiology

Though the underlying genetic defect in myeloid precursor cells is not entirely elucidated, mutations in the gene (ELA2) encoding neutrophil elastase appear to be present in most patients. These mutations may be responsible for the untimely initiation of apoptosis in myelocytes, producing their premature destruction, and interrupting the normal cycle of maturation. There may be, in addition, other underlying molecular/genetic changes producing DNA mutations and genome instability, which contribute to initiation and progression of this disease.

[edit] References

1. ^ KOSTMANN R (1956). "Infantile genetic agranulocytosis; agranulocytosis infantilis hereditaria.". Acta Paediatr 45 (Suppl 105): 1–78. PMID 13326376. 

• Christensen RD, Calhoun DA (2004). "Congenital neutropenia". Clin Perinatol 31 (1): 29–38. doi:10.1016/j.clp.2004.03.011. PMID 15183654. 

• Zeidler C, Welte K (2002). "Kostmann syndrome and severe congenital neutropenia". Semin. Hematol. 39 (2): 82–8. PMID 11957189. 

[edit] See also

• Neutropenia
• Granulocyte colony-stimulating factor

[edit] External links

• Medicine Net
• Neutropenia.ca

Support Groups:

Severe Chronic Neutropenia International Registry

Neutropenia.ca

v • d • e Pathology: hematology, hematologic disease (primarily D50-D77, 280-289) RBCs/anemia/ hemoglobinopathy (Myeloid) nutritional anemia: Iron deficiency anemia, Plummer-Vinson syndrome, Megaloblastic anemia (Pernicious anemia) hereditary hemolytic anemia: enzyme disorders (G6PD Deficiency, Pyruvate kinase deficiency,Triosephosphate isomerase deficiency), Thalassemia, Sickle-cell disease/trait, Hereditary spherocytosis, Hereditary elliptocytosis, Hereditary stomatocytosis acquired hemolytic anemia: Autoimmune (Warm), HUS, MAHA, PNH, PCH aplastic anemia: Acquired PRCA, Diamond-Blackfan anemia, Fanconi anemia • Sideroblastic anemia Polycythemia - Methemoglobinemia Coagulation/platelets (Myeloid) coagulopathy: DIC (Congenital afibrinogenemia, Purpura fulminans) • Hemophilia (A/VII, B/IX, C/XI, XIII) • Von Willebrand disease • Hypoprothrombinemia Purpura: Henoch-Schönlein, ITP (Evans syndrome), TTP primary hypercoagulable state: Protein C deficiency - Protein S deficiency - Antithrombin III deficiency - Factor V Leiden - Activated protein C resistance - Antiphospholipid syndrome other hemorrhagic conditions: Bernard-Soulier syndrome - Glanzmann's thrombasthenia - Grey platelet syndrome - May Hegglin anomaly - Pelger-Huet anomaly Essential thrombocytosis - Thrombocytopenia Monocytes/Macrophages (Myeloid) WHO-I histiocytosis (Langerhans cell histiocytosis) WHO-II/non-Langerhans-cell histiocytosis (Juvenile xanthogranuloma, Hemophagocytic lymphohistiocytosis) WHO-III/malignant histiocytic disorders (Acute monocytic leukemia, Malignant histiocytosis, Erdheim-Chester disease) -cytosis: Monocytosis -penia: Monocytopenia Granulocytes (Myeloid) -cytosis: granulocytosis (Neutrophilia, Eosinophilia, Basophilia) -penia: Granulocytopenia/agranulocytosis (Neutropenia, Kostmann syndrome) Other/general myeloid Chronic granulomatous disease Lymphoid -cytosis: Lymphocytosis -penia: Lymphopenia Other Splenic disease (Asplenia/hyposplenism, Wandering spleen) - Pancytopenia See also hematological malignancy and immune disorders