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Progeria

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Preferred language style: English (U.S.); This topic is based on a topic of biotechnology, I have chosen progeria-hutchison-gilford syndrome. This paper needs to include an intro, body, conclusion, description of topic, demonstration of understanding, relation to health/nursing, accuracy and evidence of research.

Progeria Hutchinson Gilford Syndrome (HGP syndrome) is a genetic condition that is fatal and is characterized by the child developing features of premature ageing. It tends to affect the musculoskeletal system, skin and the blood vessels. The disorder was reported separately by two different persons namely Hutchinson and Gilford in the late part of the 19th century. Till today about 100 cases of the disorder have been reported. About one in every 8 million births may develop this disorder. Many cases may go unrecognized, undiagnosed, or associated with stillborn children. The mortality rate of the condition is high due to heart and vascular disorders. A Child affected with the disorder may live for about 10 to 12 years. The condition more often affects males compared to females in the ratio of 5: 1. During the infancy stage, the child may appear to be normal, but after the age of 9 months to 24 months, the child begins to experience features of growth delays, stunted growth, short stature and the failure to put on body weight. The exact mechanism by which the disorder develops and is transmitted from one generation to another needs to be understood more clearly (BC Health Guide, 2007, & Kaiser, 2007).

Body Children affected with HGP Syndrome have certain symptoms that are especially seem in the disease. The symptoms that can develop in HGP Syndrome include:- * Crowding of teeth * Other dental malformations * Prominent eyes * Micrognathia (small jaws in comparison to the large head) * Tumor formation * Feeding problems (in infants) * Sexual dysfunction * Cataracts * Senility * Blue hue present around the mouth * Alopecia (in the scalp, eyebrows, eyelashes, etc) * Presence of small brown or white colored hairs * Atherosclerosis (thickening of the blood vessels due to loss of elasticity of the vessel wall) of the heart and the CNS * Hip dislocations * Stroke * Cardiovascular disease * Presence of prominent veins on the scalp * Arteriosclerosis – which may be life-threatening * Atrophy of the subcutaneous adipose tissues (Fatty tissue) * Nail defects * Joint stiffness * Bone and joint disorders * Underdevelopment of the jaws and the teeth * Skin lesions and rashes * Voice defects * Receding chin * Exophthalmoses * Coxa valga (hip deformity) * Beaked nose * Keloids * Widened fontanalles * Suture abnormalities – especially of the skull and the jaws * Clavicular hypoplasia * Clawing of the fingers * Hypoplasia of the maxillary sinus * Crowding of the proximal ribs * Thorax defects * Difficulty in movements and changing posture * Prominent knee * Scleroderma (BC Health Guide, 2007, Web MD, 2007, & Kaiser, 2007)

Diagnostic tests required to help diagnose HGP Syndrome includes:- * Blood tests * Urine Tests * Chest X-rays * X-ray skull * ESR * Hemogram * Liver function tests * Renal function tests * Blood glucose levels * ECG * X-ray of the sinuses and the jaws * X-ray hip and the knees * HDL cholesterol level determination (which may be decreased) (Kaiser, 2007, & Kahn, 1995)

Differential diagnosis * Pangeria * Acrogeria * Cockane’s syndrome * Rothmund-Thomson’s syndrome (Raghu, 2001)

Demonstration of an understanding The exact cause of the condition is not known properly, but it is mainly caused due to a genetic defect. This genetic defect is caused due to mutation of the gene LMNA (also known as ‘lamin A’) or due to recessively expressed traits. The gene LMNA expresses the protein lamin A that is responsible for producing the nuclear envelope (which holds the nucleus of the cell in position). When the genetic defect occurs, the lamin A protein becomes defective leading to nuclear defects. When the nucleus becomes defective premature aging as seen in progeria occurs. It is not properly understood whether HGP is a autosomal-recessively expressed condition or a genetic mutation. There is one school of thought which believes that as neither parent carriers the disorder, a mutation occurs in the single sperm or egg (ovum) just before the sperm fertilizes the egg (that is conception). Most of the mutations that occur in HGP are involving nucleotide 1824. A substitution occurs at a certain position of lamin A protein resulting in the development of progerin. This further prevents assembly of progerin at the site.
In another study conducted by Raghu et al (2001), it was found that two small female children of three and six years had the history of healthy and consanguineously married parents. Study of the siblings revealed that there was an autosomal-recessive transmission of the features of HGP syndrome. Prior to Raghu et al (2001), only 2 cases of HGP syndrome occurring in a recessively expressed fashion have been reported. The majority of cases of HGP syndrome in the literature is mainly due to a mutation genetic defect occurring immediately before conception (BC Health Guide, 2007 & Raghu, 2001). In certain other cases, autosomal dominant mutations that were located on certain parts of the genetic material namely 1q21.1-1q21.3. These mutations are closely associated with advanced age of the parents. In one case, the mother who had symptoms of mosaicism had a mutant LMNA gene which was transmitted to the baby and expressed symptoms of HGP (Kaiser, 2007).

Nursing Issues As no effective treatment is currently available for the treatment of HGP Syndrome, supportive care in the form of nursing is usually required if the child is hospitalized due to a complication arising from the condition. Some of the nursing measures that may be required include:- * Hospitalization in case of a cardiovascular or a cerebrovascular complication * Physiotherapy and joint care * Gastrostomy tube insertion for enteric feeding particularly in children or infants (Kaiser, 2007).

Conclusion Currently, the treatment available seems to be ineffective for HGP. Aspirin may be recommended as a prophylaxis against cardiovascular disorders. Some forms of complementary or alternative therapy are recommended to help overcome joint and respiratory problems. Several drugs are currently being tested for their efficacy and safety for the treatment of HGP. However, further research needs to be conducted to ensure that these patients can lead an almost normal lifestyle.

References:
BC Health Guide (2007). Progeria, Hutchinson Gilford, Retrieved September 13, 2008, from http://www.bchealthguide.org/kbase/nord/nord130.htm

Kaiser, HW (2007). “Hutchinson-Gilford Progeria.” E-Medicine. http://www.emedicine.com/derm/topic731.htm

Khan, C. E. (1995). Progeria (Hutchinson-Gilford) syndrome, Retrieved September 13, 2008, from http://chorus.rad.mcw.edu/doc/00334.html

Raghu, TY Et al (2001). “Progeria (Hutchison - Gilford syndrome) in siblings: In an autosomal recessive pattern of inheritance.” JDYL, 67(5), 261-262. http://www.ijdvl.com/article.asp?issn=0378-6323;year=2001;volume=67;issue=5;spage=261;epage=262;aulast=Raghu

Web MD (2007). Progeria, Hutchinson Gilford, Retrieved September 13, 2008, from http://children.webmd.com/progeria-hutchinson-gilford…...

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