Kawasaki Disease : An Autoimmune Disease

Imagine your child dying a few months after they are born because of the genes you passed down to them. This is possible with many genetic diseases; one such disease can be Krabbe disease. Krabbe disease changes many aspects of a diagnosed person’s life because of the troubling and debilitating side effects. Children with Krabbe disease might not be able to complete daily activities. This can affect not only the child but also the people around them.

This syndrome is not very common, because it is a rare condition. Its prevalence is not certain, but the proximate amount is 5 to 10 individuals per million newborns. Research workers appraise that there are approximately 200 to 300 individuals around the world who have this disorder. It is observed with equivalent recurrence in both males and females over all ethnic groups.

Affecting 1 in every 18,000 people, Adrenoleukodystrophy (ALD) is a genetic disease that destroys the myelin sheath surrounding a brain neuron. A brain neuron is an essential cell body that is responsible for muscle contractions and ultimately, our ability to move. Adrenoleukodystrophy is a devastating genetic mutation that affects X-chromosomes in both males and females. However, because males only have one X-chromosome, the outcome is catastrophic.

According to the WHO, cardiovascular diseases have been the leading cause of death globally claiming 17 million lives a year, more deaths than all cancer combined (Chiu and Radisic, 2013). Cardiovascular disease is responsible for a preponderance of health problems and its impact is expected to grow further as the population ages. In the UK, NHS spends about £7.74 billion as the expenditure to deal with cardiovascular diseases (Barton et al., 2011). Cardiovascular disease in the form of myocardial infarction has become the principle cause of death in developed countries, accounting for nearly 40% of all deaths (http://www.bhf.org.uk/). Congenital heart defects, which occur in nearly 14 of every 1000 new-born children, is another tragic fact that baffles medical industry (http://www.heart.org/). About 61 million Americans (almost one-fourth of the population) live with cardiovascular diseases, such as coronary heart disease, congenital cardiovascular defects, and congestive heart failure.

This disease is genetically inherited and is a dominant characteristic, therefore unfortunately the offspring of a victim has 50% chance of inheriting the disease.

Takotsubo cardiomyopathy was first acknowledged in Japan in 1990 by Sato et al (Djuric 512). The United States did not have any report of Takotsubo until 1998 (Sharkey e460). Since 1998, scientific interest in Takotsubo has steadily increased. Dr. Scott Sharkey validates the increase in scientific interest: “In 2000, only 2 publications were recorded, compared with nearly 300 in 2010. Now, takotsubo is widely recognized, with reports form 6 continents and diverse countries” (e460).

Cardiovascular disease has reportedly been the number one disease killer for men and women in the United States of America. Every one out of four deaths is caused by heart disease in the United States alone (Centers for Diseases Control and Prevention). Heart disease refers to the different types of conditions and symptoms that can affect the one’s heart and its functions to the body (Mayo Clinic). Cardiovascular/Heart disease has many causes and conditions, prevention methods and symptoms, and treatment options.

It is an inherited genetic disease. It is passed down in families in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show any symptoms. Around 1 person in every 150 people are thought to be carriers. There are two types of Krabbe disease the infantile and the late on-set. The infantile form, which affects 85 to 90% of people with

2014). There has also been observed phenotypic heterogeneity among common mutations that ware documented within families, this despite specific phenotypes being associated with those known mutations (Zou et al. 2014). The study performed concludes that EOAD is a highly heritable disease, though not necessarily a polygenic disease like it was originally thought (Wingo et a2012). Due to the high heritability rate found in the study, from 92-100%, it is deduced that EOAD is almost completely based within genetic factors. In the Wingo et al. (2012) study, a concordance of less than 10% was found between parent and their offspring, thus suggesting that EOAD is caused by a single autosomal recessive locus. An explanation for this given is that about 10% is due to the autosomal dominant, while the rest of the cases are either a recessive allele at a single locus or smaller number of loci that presents in women but has less penetrance in males (Wingo et al.

This disease is inherited from parents, and it is dominant, meaning only one copy of the gene is needed to develop this disorder. It is extremely rare and it affects less than 0.01% of people of European ancestry. See figure 2 for heredity patterns.

Differential diagnoses for the child includes, Pediatric Rocky Mountain Spotted Fever, Measles and Kawasaki Disease (Bennet, 2015).

Muscular dystrophy (MD) is a group of genetically transmitted diseases characterized by progressive symmetric wasting of skeletal muscles without evidence of neurologic involvement (Lewis, 2011). There are four different types of muscular dystrophy. The four types are Duchenne, Becker, Landouzy-Dejerine, and Erb. Duchenne muscular dystrophy is the most common type among children. It only affects boys; it’s passed down from the mother. Duchenne muscular dystrophy is created from X-linked recessive gene from the mother. About one in thirty-five hundred boys are born with Duchenne muscular dystrophy. The boys will experience weakening of the muscles, wasting and contractures and inability to walk by themselves by the time they even reach

A.Who first discovered the genetic disorder or autoimmune disease? Kraepelin recognized biological causes of mental illnesses. He is believed to be the first person to seriously study mental illnesses. Kraepelin 's Manic Depressive Insanity and Paranoia in 1921 detailed the difference between manic-depressive and praecox, which is now known as schizophrenia.

PKU is passed on in a “autosomal recessive” gene. This means that a person may have one of the genes for the disease but if they have the other dominant gene they will not be affected by the disease. In the diagram ‘P’ is the dominant gene and ‘p’ is the recessive gene. People who have one recessive gene and one dominant gene ‘Pp’ are called silent carriers. The person with ‘PP’ does not have any of the PKU gene. The person with ‘pp’ has PKU. Each time two carriers reproduce the chances the baby of having PKU is 25%. The chances of them being a silent carrier is 50%. One in every about fifty people in the general population are carriers. And the chances of that carrier’s mate is a carrier is about one in 2500. PKU occurs in about one of out every 10,00 babies born in the United States. Incidents of this disease occur equally in male and female babies.

It was found in recents studies that KS is most commonly inherited maternally. Due to the regular levels of aneuploid sperm men produce, all men in the general public have a risk of producing an aneuploid child, therefore producing a child with KS. Knowing this, a man does not necessarily have to have KS to still produce a child with Klinefelter syndrome however it is more common for a child to inherit Klinefelter syndrome if his father also has KS.