Nurse Case Study Example
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Autosomal-Recessive Inheritance Pattern. The Role the Alleles Play in this Inheritance Pattern.
Autosomal-recessive inheritance pattern is a condition whereby parents pass two genes that are mutated to their offspring, one from each parent, leading to an autosomal-recessive disorder. In this case, an individual is only said to be susceptible or in a position to express the phenotype if he/she acquires two copies of disease alleles. The pattern occurs where a recessive allele is inherited by an offspring from parents and where parents are the carriers of a mutated gene. Both parents having a disease allele have a twenty five percent probability of producing two carriers with disease traits, fifty percent chance of a child with a disorder and twenty five percent of an offspring with no inheritance of a disease allele. A child from parents carriers with no inherited disease allele or expression of phenotype would not pass a disorder to his/her offspring (WHO, 2011).
Genotype and Phenotype.
The genotype of an individual or organism refers to the genes composition or set carried while phenotype is all the characteristics that are observable, influenced by both the genes and the environment. Therefore, the genotype (set of genes) affects the observational characteristics of an individual (phenotype) under certain environmental conditions. Hence, evolution is said to be brought about by changes in genotype (WHO, 2011).
Punnett Square and Sickle Cell Anemia.
The Punnett Square is a tool (a diagram) with four boxes that aids in understanding how alleles are transmitted to a subsequent generation. It will help in understanding the display of all possible combinations for transmission of sickle cell anemia gene and expression of a disease in a child. Letters ‘HbA’ are mainly used to show normal hemoglobin, while ‘HbS’ outline sickle cell one (Tamarkin, 2007). For the purpose of simplicity, letters ‘AS’ will be used to represent autosomal recessive parents and ‘SS’ to outline sickle cell anemia condition of an offspring, as shown in the Punnett Square below.
Female Parent (AS)
Male parent (AS)
AS: carrier and traits
AA: Normal child
Differences between Sickle Disease and Sickle Trait.
Sickle cell disease is an inherited disorder and affects red blood cells. Blood of such individuals is mainly composed of sickle hemoglobin. Sickle cell blood may contain crescent-shaped red blood cells that cause difficulty in flowing and sometimes blockage of small vessels leading to damage of tissues lacking blood; thus the symptoms. Sickle cell trait is a state of having the capability to pass on (carrier) either Sickle Cell Disease or characteristics to offspring(s) without showing any symptoms. People with Sickle Cell Disease have two inherited sickle cell genes with sickle hemoglobin making them unable to produce normal hemoglobin. Death or damage of tissues and organs leads to symptoms like intense pain, anemia, hand-foot syndrome, swelling, jaundice (yellow skin and eyes), frequents infections, and stunted growth. An ability to produce normal hemoglobin allows those with sickle cell trait to live a full lifespan while the inability to do the same in those with sickle cell disease leads to reduced lifespan, especially if frequent treatments, such as antibiotics, pain killers, blood transfusion, bone marrow transplant, etc., are not administered (NASCF, 2013).
Thalassemia is a disorder that is inherited and characterized by abnormal production of hemoglobin that destructs and damages red blood cells. Thalassemia is a result of failure of a gene that aids in production of either alpha-globin or beta-globin genes. Alpha thalassemia occurs due to mutation of gene(s) responsible for alpha protein, while beta thalassemia is due to the problem with genes related to beta protein. Alpha thalassemia is found mainly among the Chinese, Asians from South East, and Africans, while Beta thalassemia thrives in the Mediterranean, among African Americans, Chinese, and Asians. Alpha and beta thalassemia can both be categorized as major or minor. Thalassemia major is due to inheritance of mutated genes from both parents; minor thalassemia is brought by inheriting defect gene from one parent (Gersten, 2014).
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Hemoglobin Chain Disturbances in Sickle Cell Disease and Thalassemia.
Sickle Cell Disease is characterized by faultiness in the structure of a hemoglobin molecule as a result of inheriting a mutant gene (autosomal recessive) leading to production of sickle hemoglobin. Sickle cell hemoglobin is short of beta-globin as a result of gene mutation in chromosome number 11, hence the production of sickle-shaped red blood cells, hence anemia occurs. Thalassemia, on the other hand, occurs as a result of diminished or reduced production of one of the two components of hemoglobin (alpha and beta-globin proteins), where equal amount of the two is essential for normal functioning. The hemoglobin chain imbalance due to unequal production of either beta or alpha proteins leads to massive destruction and damage of red blood cells resulting to anemia. The sub-units produced in the case of thalassemia are normal (WHO, 2011).
Progeria and Pathophysiology.
Progeria (Hutchinson-Gilford Progeria Syndrome – HGPS) is a genetic condition that is very rare and causes rapid aging among children. Its symptoms are similar to those of a normal aging human being but occurring on a child leading to deaths at the teen age: an average of 13 years and rarely early 20’s (Haldeman-Englert, 2013). Pathophysiology is a study of physical manifestations of a disease with clear correlation of fundamental abnormalities and process disturbances involved. Pathophysiology is not aimed at determining the treatment for diseases rather than the processes that bring about symptoms of that particular disease (Pathophysiology). HGPS or progeria occurs as a result of LMNA gene mutation known for production of a protein known as lamin A, which is the outer structural part engulfing the nucleus of a cell. Progerin is the name given to lamin A protein known to cause progeria (Haldeman-Englert, 2013).
Progeria manifests itself in the form of a heart disease, slow or no growth rate, stiff joints, hip dislocations, and losing hair and body fat. Rapid aging is detected from 18 to 24 months with an average lifespan of 13 years (8-21 years). Heart and stroke cause most deaths and child’s brain is not affected (Haldeman-Englert, 2013).
Progeria has no cure or particular treatment. Mostly, statin medications and aspirin are used to protect against occurrences of stroke or heart attack (Haldeman-Englert, 2013).
Pathophysiology of Tay-Sachs Disease.
Tay-Sachs disease is a genetic condition that is fatal, progressive, and affects nerve cells located in the brain. Each individual possesses two copies of gene Tay-Sachs (HEXA). Tay-Sachs disease prevails when none of the HEXA genes is working due to a defect or mutation. A person with one working HEXA gene and a defective one is called a carrier with a potential to pass the disease to the offspring brought about by one parent transmitting the defective gene (50% probability per pregnancy). Autosomal recessive parents have a potential of one out of four (25%) as a probability of developing Tay-Sachs per pregnancy (Cachon-Gonzalez et al., 2006).
Tay-Sachs Disease Presentation.
Tay-Sachs disease starts developing from the age of 3 to 6 months, after which a child starts experiencing weakness of the muscles, rapid contraction (especially during sleep) of the large muscles, intense startle response, and low muscle tone. At the age of 6 to 10 months, motor skills are lost, like the inability to the earlier learned developments, such as sitting, eye movement, and attentiveness decrease, and the eye builds up a cherry-red spot. After the age of 8-10 months, there are less and less movements and response, loss of eyesight and seizures after 1 year. The head of a child widens after 18 months. In 2 years, swallowing becomes a problem, and it is between ages of 2-4 years that the child dies mainly of pneumonia (Cachon-Gonzalez et al., 2006).
Missing Enzyme and Fatty Substance.
Deficiency in hexosaminidase A (enzyme) leading to accumulation of GM2 gangliosid (fatty substance) in the brain leads to Tay-Sachs disease (Cachon-Gonzalez et al., 2006).
Management of Tay-Sachs Disease.
Tay-Sachs disease has no cure and treatment is mainly done by keeping the patient comfortable including providing pain relieving medication to ease pain and manage seizures, reduction of build-up of mucus in the lungs through respiratory care, presenting a feeding tube, physical therapy, and proper nutrition. These services encompass palliative care. At home, emotional support for family members is essential through support groups to ease the build-up of pressure. Research for the cure is underway (Herndon, 2012).
Pathophysiology of Cystic Fibrosis (CF).
Cystic Fibrosis is a disorder that is genetic in nature and characterized by sticky mucus that clogs the digestive system and the lungs. It is caused by genetic mutation of gene CFTR, which is a responsible for creation of proteins, which regulate the levels of sodium and chloride within the cells. Defectiveness of the gene leads to accumulation of sticky mucus that blocks the lungs and digestive system leading to the disorder (Kaneshiro, 2014).
Diagnosis of CF.
CF is determined in infants through a blood spot test, where small amount of a newborn’s blood is examined in a lab (Kaneshiro, 2014).
Clinical Manifestations of CF.
The symptoms of CF emerge during early childhood marked with respiratory manifestations, such as chest and lung infections that are recurrent, and a cough that is persistent, breathlessness, wheezing, and stuffy nose. Manifestations of their effect on the digestive system include greasy stool that is smelly, stunted growth and poor weight gain, constipation and blockage of the intestines. Saline sweat of a child is also noticeable once the child is kissed (Kaneshiro, 2014).
Chromosomal Abnormality in CF.
There are 22 pairs of non-sex-linked (autosomal) and 2 sex-linked chromosomes in all human beings. The defective gene responsible for CF occurs in the seventh pair of autosome or non-sex-linked chromosome of the first 22. It is therefore not sex-linked and can appear in any gender. CF occurs through autosomal recessive pattern (Kaneshiro, 2014).
The Average Lifespan of a Child with CF.
CF has no cure. In the 21st century children with CF can stay healthy until adulthood because of advancements in treatment, when the lungs complications worsen rendering some disabled. The average lifespan of people with CF is 37 years. Death is mainly caused by lung problems (Kaneshiro, 2014).
Pathophysiology of a Factor V Leiden Disorder.
This is an inherited disorder caused by a defective gene code for Factor V that aids in blood clotting resulting into development of irregular clots in the blood, which are fatal (Factor V Leiden).
Part of Clotting Cascade Affected by Factor V Leiden Disorder.
Platelets, which are specialized blood cells, react with clotting factors (proteins in blood) to create a clot during arterial and vein injuries. Mutations in genes lead to Factor V protein responsible for clotting to respond slowly to anti-clotting factors in blood resulting into formation of abnormal clots that are life threatening (Factor V Leiden).
Management of Factor V Leiden Disorder. The Teaching the Nurse Should Do for Parents of a Child with Factor V Leiden Disorder.
Mainly, blood thinning medications or anticoagulants, for instance, heparin and warfarin, are used as treatment for people who develop clots as a result of Factor V Leiden Disorder. A nurse should explain the parents of a child with Factor V Leiden Disorder that blood clots do not appear during early childhood and teenage, and for those with blood clots already taking of anticoagulants and monitoring by a doctor is essential. The nurse should also say that the affected child should avoid activities that would result into injuries, such as cuts, e.g. contact games, the use of hard toothbrushes, etc. (Factor V Leiden).
Pathophysiology of Phenylketonuria Disorder.
Phenylketonuria is an inherited disorder that is rare and responsible for accumulation of phenylalanine (amino acid) in the body. This disorder is also called PKU. Gene mutation leads to deficiency of an enzyme needed for processing of phenylalanine. Eating of foods rich in proteins leads to the massive build-up of phenylalanine in individuals with the defective gene. It is a disorder resulting from autosomal recessive inheritance pattern. The tests for PKU are conducted on newborn babies who have ingested some protein or 24+ hours old for accuracy in results. Blood samples are taken and tested for metabolic disorders, such as PKU. Once PKU presence potential is established in a baby, more blood and urine tests are conducted to confirm results. A genetic test is also done on both the parent and the child to detect gene mutations (Phenylketonuria).
Chromosomal Abnormality of PKU Disorder.
PKU is caused by a mutation of a gene present in the non-sex-linked (autosome) chromosome number twelve. The mutant is a gene code for an enzyme called phenylalanine hydroxylase (PAH) present in the liver that breaks phenylalanine (amino acid). Mutation leads to inability of the enzyme to break down amino acid phenylalanine leading to its build-up, hence the disorder (Phenylketonuria).
Management of PKU Disorder.
PKU disorder has no cure and is managed by very low intake of protein as the main source of phenylalanine. For children, a PKU formula is prescribed to ensure vital proteins and nutrients necessary for their health and growth are provided without presenting phenylalanine. Drugs, such as sapropterin, have been approved as medication of PKU disorder by Food and Drug Administration, which increases tolerance level to phenylalanine. These drugs are administered under special prescriptions (Phenylketonuria).