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Congenital agranulocytosis

A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood.

Symptoms of Congenital agranulocytosis

The following features are indicative of Congenital agranulocytosis:
  • sudden fever
  • rigors
  • sore throat
  • severe neutropenia
  • recurrent infections
It is possible that Congenital agranulocytosis shows no physical symptoms and still be present in a patient.

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Common Causes of Congenital agranulocytosis

The following are the most common causes of Congenital agranulocytosis:
  • autosomal recessive inherited disorder

Prevention of Congenital agranulocytosis

No, it is not possible to prevent Congenital agranulocytosis.
  • autosomal recessive inherited disorder

Occurrence of Congenital agranulocytosis

Number of Cases

The following are the number of Congenital agranulocytosis cases seen each year worldwide:
  • Widely occurring between 500K - 1 Million cases

Common Age Group

Congenital agranulocytosis most commonly occurs in the following age group:
  • At birth

Common Gender

Congenital agranulocytosis can occur in any gender.

Lab Tests and Procedures for Diagnosis of Congenital agranulocytosis

The following lab tests and procedures are used to detect Congenital agranulocytosis:
  • Blood test: To check for neutrophils level
  • Genetic testing: To check for the gene mutations occuring in the condition

Complications of Congenital agranulocytosis if untreated

Yes, Congenital agranulocytosis causes complications if it is not treated. Below is the list of complications and problems that may arise if Congenital agranulocytosis is left untreated:
  • frequent infections of the sinuses, lungs, and liver
  • osteopenia
  • osteoporosis

Procedures for Treatment of Congenital agranulocytosis

The following procedures are used to treat Congenital agranulocytosis:
  • Bone marrow transplantation: To treat Kostmann's Syndrome
  • G-CSF treatment: Helps treating Kostmann's syndrome on a short term basis

Last updated date

This page was last updated on 2/04/2019.
This page provides information for Congenital agranulocytosis.

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