Digeorge Syndrome

Definition of Digeorge Syndrome

Digeorge Syndrome is an immune system disorder where it is also called as the 22q11.2 Deletion Syndrome. This condition has chromosomal defects in chromosome22 that is why the name it called such. This kind of disorder is one of the phenotypical disorders experienced by a patient. ^[3]

Causes

The deletion of the chromosomes takes place during the embryonic stage. Since the chromosomes are involved with this syndrome, this usually takes place upon fetal development. The abnormal formation of certain tissues usually arises from a small single group of embryonic cells. This condition is also genetic.

Signs & Symptoms

Since the chromosomes are affected and resulting to poor development of several parts of the body system.^[1][3]

• Cyanosis or pallor due to lack of oxygen inside the blood and body
• Inability to gain weight
• Dyspnea or breathing problems
• Spasms and twitching of mouth, hands and limbs
• Asepsis or recurrent infections
• Stunted growth
• Poor muscle tone (hypotonia)
• Abnormal positioning of the posterior mandible or maxilla (Retrognathia)
• Undersized jaws (Micrognathia)
• Small teeth
• Malformed and low set of ears
• Short vertical groove between the junction of the upper lip and nasal (philtrum)
• Longitudinal shape of face
• High and broad nasal bridge
• Narrow palpebral fissures
• Distant organs (hypertelorism)
• Unusual facial appearances such as asymmetrical face when crying
• Inability to develop or delayed speech development
• Delayed milestone development

Diagnosis

Early detection and prevention can be done through series of tests and examination to avoid acquiring and worsening of this syndrome. The patient will need to do these kind of procedures:

• Genetic Studies
• Chromosomal microarray analysis (CMA) or array comparative genomic hybridization (aCGH)
• Fluorescent in situ hybridization (FISH)
• TBX1 gene studies
• Multiplex ligation-dependent probe amplification (MLPA)

Other series of Laboratory Exams

• Complete blood cell (CBC) count
• Serum calcium and parathyroid hormone (PTH) studies
• Evaluation of T-cell count and function
• Flow cytometry
• Reverse-transcriptase polymerase chain reaction (RT PCR) assay to assess thymic T-cell out for detection of TCR excision circles (TREC)
• Antibody response studies
• Imaging studies
• Radiography
• Magnetic resonance imaging (MRI)
• Computed tomography (CT) scanning
• Echocardiography
• Angiography and magnetic resonance angiography (MRA)

Prognosis

The patients with Digeorge Syndrome have various prognosis. It usually depends on the large nature and degree of the involved different body organs that were affected. Usually, many adults who suffered from this syndrome have extensive live and were able to have productive lives. ^[1]

Life Expectancy

Individuals who survived from this condition from infancy and early childhood can expand their lives to a normal state. Usually if the conditions are detected earlier and addressed the prevalence of this syndrome can be repair and treated immediately. It takes a lot of monitoring and coping support to make the patient survive and enjoy living their lives. ^[4]

Treatment

The treatments of Digeorge Syndrome depends on what is the organ affected by this condition. It usually addresses the organs that have complications which makes the patient’s state worse.

Involving Organs

Heart Defects – the patient will undergo surgeries and oxygen supplication to avoid deoxygenated blood circulating in the body and affecting other organs.
Cleft Palate – the patient will also need to undergo series of surgery to repair the palate. The surgery that is performed is called Palatoplasty (reconstructive repair of the cleft palate).
Thymus and Paarathyroid Dysfunctions – the patient takes supplements to treat gland functions. If the condition is not treated by medicines, the patient will need have transplants to balance the gland levels and functions.
Pyschological Problems and Disorders – Therapies and counseling are attended by the patients to be able to cope up.

Medicines and Supplements

Supplements

• Calcium supplementation – For hypoparathyroidism-associated hypocalcemia (low levels of calcium in the blood and body).
• Intravenous Immunoglobulins

Anti-biotics

• Taken to avoid further infection caused by complications of the syndrome.
• Trimethoprim
• Sulfamethoxazole

Vitamins and Minerals

The common affected level inside the body is calcium, which is why the patient needs to prevent a decrease level. ^[4]

Ascorbic Acid – to fight infections and relieve immune system dysfunction

Calcium carbonate (Oystercal, Caltrate) – Calcium carbonate is used for the treatment and prevention of calcium depletion inside the body.

Calcium makes the nerves moderates and makes the muscle performance regulating the action potential excitation threshold. One (1) gram of calcium carbonate is equal to 400 mg of elemental calcium. Calcium carbonate has higher oral bioavailability than other orally administered calcium salt products in the markets.

Calcitriol (Rocaltrol) – This agent is a vitamin D analogue and the primary active metabolite of vitamin D-3. Calcitriol increases calcium levels by promoting the absorption of calcium in the small and large intestines and the retention of calcium in the kidneys. Its use should be initiated only upon an endocrinologist’s recommendation since there are usually side effects if taken in large amounts.

Calcium gluconate (Kalcinate) – Calcium gluconate moderates nerve and muscle performance and facilitates normal cardiac function. It can initially be administered intravenously. A high-calcium diet can be used to maintain calcium levels.

Taking dairy products as part of the diet makes the levels in balance. Some patients require oral calcium supplementation. The ten percent (10%) IV solution provides 100 mg/mL of calcium gluconate, which equals 9 mg/mL (0.46 mEq/mL) of elemental calcium.

Ergocalciferol, vitamin D-2 (Drisdol) – This vitamin D-2 analogue is converted in the liver to an active intermediate and then further converted to its most active form in kidneys.

Ergocalciferol effectively increases renal reabsorption of calcium, intestinal absorption of calcium, and calcium mobilization from bone to plasma. That is why supplements are needed by the body to make sure that the levels of calcium inside the blood is in homoestasis.

Complications

This condition results to poor progress of some body parts leading to other medical problems which can be experienced by the patient such as the following: ^[2][3]

• Heart Defects – Common congenital heart defects are noted such as the Vent ricular Septal Defect (VSD), Truncus Arteriosus (TD) and Tetralogy of Fallot (TOF)
• Poor Immune System Functions (which makes the patient prone to any other forms of sickness and diseases)
• Cleft Palate (palatoschisis) which is common to some of the patients
• Hypocalcemia (having low levels of calcium in the blood and the body)
• Delayed improvement with one’s behavioral and emotional problems
• Thymus Gland Abnormalities and Parathyroid Gland Abnormalities (hypoparathyroidism)
• Autoimmune Disorders – the risk of having autoimmune diseases are increase and the common disorders are the Rheumatoid Arthritis (RA) and Grave’s Diseases
• Hormonal abnormalities
• Renal disorders
• Gastrointestinal disorders
• Bones and orthopedic disorders
• Psychological problems and disorders

Pictures

References:

1. http://emedicine.medscape.com/article/886526-overview
2. http://primaryimmune.org/about-primary-immunodeficiencies/specific-disease-types/digeorge-syndrome/
3. http://www.mayoclinic.org/diseases-conditions/digeorge-syndrome/basics/definition/con-20031464
4. http://byebyedoctor.com/digeorge-syndrome/#digeorge-syndrome-prognosis
5. http://www.heart.org/HEARTORG/Conditions/CongenitalHeartDefects/AboutCongenitalHeartDefects/Ventricular-Septal-Defect-VSD_UCM_307041_Article.jsp#.Vwd9YPl97IU