BARTH SYNDROME

Barth Syndrome

Barth Syndrome

Introduction

Barth syndrome (BTHS), also known as Methylglutaconic aciduria, is a rare but serious genetic disorder associated with X. noncompaction) - methylglutaconic. Although not always present and the fundamental characteristics of this disorder multiple systems include the heart muscle (muscle or artificiality, and perhaps with noncompaction left ventricle and neutrophils delay of growth (chronic, periodic, or intermittent). It is believed to be from a severe shortage in the diagnosis and can be estimated to occur in one out of about 300000 births. Family members of the Barth Syndrome Foundation and its affiliates live in the United States, Canada and the United Kingdom, Europe, Japan and South Africa, Kuwait and Australia.

The syndrome was name after Dr. Peter Bart (nerves children) in the Netherlands for his research and discovery in 1983. In addition, is closely link with cardiolipin protein electron transport chain and the structure of the mitochondrial membrane, which is the energy-producing organelle of the cell. Barth syndrome many different categories: nonsense, missense, deletion, and frame shift, connectivity the genetic mutation and variation database). So far, found to Barth syndrome exclusively in males (Steward, 2010).

Frequency

Frequency Barth syndrome is unknown. It is assume that the disease is extremely rare. However, a small number of known cases may be because this condition has been describe recently (in 1981) and still not too well known to neonatologists, pediatricians and children's cardiologist.

Inheritance

Barth syndrome inherits in an X-linked recessive manner. Women can be carriers of the mutant gene, while they have a 50% chance to pass the gene carrying the mutation sons. All the daughters of women carriers will be healthy, but half of them will also be carriers of the mutant gene.

It is important to remember that not every mother whose baby boy with the syndrome of Bart, is the bearer of the mutant gene. Portion of cases of this disease is the result of mutations that have arisen for the first time in a patient. The question of whether or not a woman is the bearer of the disease can only be solving by molecular genetics techniques (Spencer, 2006).

Survival

Survival of patients with boys who have not a correct diagnosis does not exceed 30% by the age of 4 years. Early diagnosis, treatment and prevention of specific complications can raise this figure to 85-90%.

Clinical symptoms

Typically, patients with dilated Cardiomyopathies boys there, but can be identified and concentric myocardial hypertrophy. Common symptom in patients is endocardial fibroelastoz. Complications of the heart are the main threat to the lives of patients.

Reduce the number of neutrophils leads to increased susceptibility to infections, particularly purulent infections of the mouth. Recurrent infections are the second most life-threatening complications Barth syndrome.

Muscle weakness and delay razvitiya. Most patients have constant fatigue, muscular weakness. Typically, patients with growth lag behind age norms; the pace of physical development of reduced weight is also reduced, even with satisfactory nutrition. Bone age (determined radiographically) was reduce and lagged behind the passport for 1-2 years. Patients identified mitochondria changed shape and ...