Differential Diagnosis
Diseases
Drugs
More
[+] Tips
- Try building your search one term at a time, and be as specific as you can! Search term example: "chronic cough".
- Do not enter multiple findings such as "anemia, chronic cough, weight loss, vomiting" all at the same time.
- After selecting your term from the search results a list of possible diagnoses will be generated. If the list is too long, you will be able to narrow it down by entering additional terms.
- Do not enter values such as "heart rhythm 110" or "sodium 125", instead use "tachycardia" or "hyponatremia".

Disease Information for Kostmann Syndrome

Demographics & Risk Factors

Population Group

Infant

Population/Pediatrics population

Sex & Age Groups

Population/Infant

Laboratory Tests

Abnormal Lab Findings - Decreased

WBC

Neutrophiles (Lab)

WBC/White Blood Cell Count/Leukocytes (Lab)

Diagnostic Test Results

Pathology

Bone Marrow/Abnormal

Associated Diseases & Rule outs

Associated Disease & Complications

Acute Myelogenous/Myeloblastic Leukemia AML

Bacterial infection, general

Infections

Myelodysplasia

Neonatal pneumonia, bacterial

Pneumonia

Pneumonia, bacterial

Sepsis, overwhelming

Disease Mechanism & Classification

Class

CLASS/Hematologic (category)

Pathophysiology

Pathophysiology/Gene locus 1p35

Pathophysiology/Gene locus Chromosome 1

Pathophysiology/Myelodysplasia process

Pathophysiology/Gene locus Chromosome 1p

Pathophysiology/GCSFR gene mutation

Pathophysiology/Gene locus 1p35-1p34.3

Process

PROCESS/Autosomal recessive disorder (ex)

PROCESS/Congenital/developmental (category)

PROCESS/Hereditofamilial (category)

PROCESS/Anomalies/Deformities/Malformations (EX)

Synonyms

Synonym

Synonym/SCN, Synonym/Severe Congenital Neutropenia

Definition

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.

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.

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

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.

[Wikepedia online 2008]

(Edit)

External Links Related to Kostmann Syndrome

PubMed (National Library of Medicine)

NGC (National Guideline Clearinghouse)

Medscape (eMedicine)

Harrison's Online (accessmedicine)

NEJM (The New England Journal of Medicine)

Ads

This site is designed primarily as a reminder system for use by qualified physicians and other medical professionals. By using this site you understand and accept that DiagnosisPro.com shall not be used as a diagnostic decision-making system and must not be used to make a clinical diagnosis or replace or overrule a licensed health care professional's judgment or clinical diagnosis (full terms of use). This site complies with the HONcode standard for trustworthy health information: verify here.