Reticular dysgenesis
Reticular Dysgenesis (pronounced: reh-tick-you-lar dis-jen-uh-sis) is a rare and severe form of congenital neutropenia, a group of disorders characterized by a shortage (deficiency) of neutrophils, a type of white blood cell that plays a role in inflammation and in fighting infection.
Etymology
The term "Reticular Dysgenesis" is derived from the Latin word "reticulum" meaning "net" and the Greek word "dysgenesis" meaning "abnormal formation".
Symptoms
The condition is characterized by a near absence of neutrophils, leading to severe infections beginning in infancy. Other symptoms include deafness and a lack of development (dysgenesis) of certain tissues, particularly those of the lymphoid system, which includes the lymph nodes, thymus, and spleen.
Causes
Reticular Dysgenesis is caused by mutations in the AK2 gene. The AK2 gene provides instructions for making an enzyme called adenylate kinase 2, which is found in mitochondria, the energy-producing centers within cells.
Diagnosis
Diagnosis of Reticular Dysgenesis is based on clinical findings, specialized blood tests, and molecular genetic testing to identify mutations in the AK2 gene.
Treatment
Treatment of Reticular Dysgenesis typically involves bone marrow transplantation or stem cell transplantation to restore the immune system.
Prognosis
The prognosis for individuals with Reticular Dysgenesis is generally poor due to the severity of the condition and the high risk of life-threatening infections.
See Also
External links
- Medical encyclopedia article on Reticular dysgenesis
- Wikipedia's article - Reticular dysgenesis
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