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Myelokathexis

Myelokathexis is a congenital disorder of the white blood cells that causes severe chronic leucopenia (white blood cell deficiency) and neutropenia (abnormally low level of Neutrophils or White Blood Cells). Though the disease process has not been understood well enough, the condition refers to the retention of abnormal mature neutrophils and bone marrow. This disorder has been inherited in an autosomal dominant manner. Myelokathexis can also signify degenerative changes and hypersegmentation of bone marrow myeloid cells. In simple words myelokathexis refers to a rare congenital neutropenia. This condition arises due to the impaired release of granulocytes from the bone marrow. It is more to do with disorders caused by abnormalities in genes or chromosomes. This condition is usually present from birth.


Symptoms of Myelokathexis

The following symptoms are largely reported in people suffering from myelokathexis
Recurring infections
Neutropenia
Abnormal neutrophils
Fatigue
Hyper plastic changes in bone marrow
Weight loss
Shortness of breath


The disease can be diagnosed with blood tests and bone marrow test. Bone marrow transplantation and GM CSF - granulocyte colony stimulating factor and GM CSF - granulocyte macrophage colony stimulating factor are used in treating this condition


Kostmann's syndrome

A bone marrow disorder that is mostly inherited, Kostmann's syndrome indicates a severe deficiency in neutrophils. Neutrophil is a type of white blood cell that helps the body fight infections. This condition is referred to as an autosomal recessive disorder of neutrophil production. It is also commonly known as severe congenital neutropenia. This condition leads to recurrent infections right from infancy as this condition is usually diagnosed just after the birth of a baby. Infection of the lungs, sinus glands and liver are common. There are several forms of neutropenia, of which Kostmann's syndrome or congenital neutropenia is common in kids.


People affected with this condition may develop fever and inflammation of the skin and gums. About 40% of the people affected by this disease have decreased bone density thus making the bones brittle. About 20% of the people with this condition are prone to develop leukemia or myelodysplastic syndrome during adolescence. Seizures, heart and genital abnormalities may also be noticed in such patients. If not treated rightly, the condition could prove fatal. The syndrome is named after the Swedish doctor Kostmann who discovered it.

Kids suffering from this condition inherit an abnormal gene from each of their parent. Carriers of the gene do not experience any symptom and so until the child is born the parent wouldn't know that they carried such a gene.

Symptoms of Kostmann's syndrome

Severe neutrophil deficiency
Necrotic ulceration of genital mucosa
Necrotic ulceration of oral mucosa
Recurrent infection
Spleen congestion
Liver congestion

The disease can be diagnosed with blood tests, genetic testing and bone marrow tests. The physician might administer a substance called granulocyte colony stimulating factor (GCSF). This stimulates the bone marrow to produce more neutrophil. Other forms of treatment include Haematopoietic stem cell transplantation (HSCT), bone marrow transplant and antibiotics.


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Bibliography / Reference

Collection of Pages - Last revised Date: June 20, 2019