What is dyskeratosis congenital?

What is dyskeratosis congenital?

Dyskeratosis congenita is a rare genetic form of bone marrow failure, the inability of the marrow to produce sufficient blood cells. Dyskeratosis is Latin and means the irreversible degeneration of skin tissue, and congenita means inborn.

What is DKC disease?

A rare, inherited disorder that can affect many parts of the body, especially the nails, skin, and mouth. It is marked by abnormally shaped fingernails and toenails that may grow poorly; changes in skin color, especially on the neck and chest; and white patches inside the mouth.

What is bone marrow failure?

Bone marrow failure develops when the bone marrow is unable to produce enough healthy blood cells for an individual’s needs. The bone marrow is the soft, spongy center of the bones that is the body’s factory where all blood cells are produced. These include: Red blood cells, which carry oxygen throughout the body.

What organelle does dyskeratosis congenita affect?

Dyskeratosis congenita is a disorder of poor telomere maintenance mainly due to a number of gene mutations that give rise to abnormal ribosome function, termed ribosomopathy. Specifically, the disease is related to one or more mutations which directly or indirectly affect the vertebrate telomerase RNA component (TERC).

What is the life expectancy of a person with Shwachman Diamond Syndrome?

Life expectancy of patients with SDS is expected to be >35 years. However, those with significant haematological abnormalities, including AML, have significant morbidity and mortality and subsequently reduced life expectancy.

Who discovered dyskeratosis congenita?

The name “dyskeratosis congenita” was derived after the description of two brothers with nail dystrophy, oral leukoplakia, and skin pigmentation anomalies by Zinsser in 1910 [6].

What are the 3 main consequences of bone marrow dysfunction?

The most common complications of inherited bone marrow failure include bleeding, infections, malignancies such as squamous cell carcinoma, and lymphoproliferative disorders.

Is Shwachman-Diamond syndrome life threatening?

Many affected individuals have problems with bone formation and growth, most often affecting the hips and knees. Low bone density is also frequently associated with this condition. Some affected infants are born with a narrow rib cage and short ribs, which can cause life-threatening problems with breathing.

Can Shwachman-Diamond syndrome Be Cured?

Although there is not a cure for Shwachman-Diamond syndrome at this time, treatment can help manage a child’s symptoms. Common treatments include: Pancreatic enzyme supplements. Vitamin supplements.

Does Vitamin D Help bone marrow?

Particularly in engraftment, a study with adult haematopoietic stem progenitors found that vitamin D supplementation enhanced the bone marrow recovery a 34% higher compared to control cells.