Acute lymphoblastic leukemia disorder
ALL is a malignant disorder of the hematopoietic stem cell compartment, and it is characterized by an increased number of white blood cells in the bone marrow and or peripheral blood. The progression of events is fast, and if not treated, it gets fatal within a few months
Acute lymphoblastic leukemia infiltrates the kidneys causing kidneys to enlarge, and this is called nephromegaly. The infiltration of organs consequently progresses to kidney failure.
Sickle cell disease crisis is characterized by sudden pain that has a sudden onset and can last for several hours. Pain is a result of sickle celled red blood cells blocking the blood vessels due to their rigid nature and tendency to clump together in the vessels.
Pain is the predominant feature of sickle cell crisis, and it because of microvaso-occlusion. During this cell-free DNA is released together with heme, and they initiate inflammation, thrombosis, and ischemia-reperfusion injury, all of which are characterized by pain.
SCD is due to gene mutation, and the variation is passed down from parents to their offsprings in an autosomal recessive pattern. Genetic modification is a point mutation results in hemoglobin S gene, which codes for sickle-shaped red blood cells, which polymerizes in low oxygen states. Because the gene is autosomal, it affects males and females equally.
Hemophilia is inherited in an X linked recessive pattern meaning the gene coding for this disorder is only located on the X chromosome. Males have one X. Therefore, one copy of the altered gene on the chromosome causes them to suffer from hemophilia,females on the other, have had two X chromosomes. When one is affected, then they are only carriers of the disorder, and for them to become hemophiliacs, both the X chromosomes have to carry the altered gene. Mutations in factor viii and factor ix are responsible for hemophilia disease.
When an individual is a hemophiliac, factor viii, and factor ix, which are crucial in the blood clotting cascade, are altered. Therefore the response to injury is affected because the blood clotting is not working correctly. They, therefore, present with continuous blood loss when injured.
Meningomyelocele is a neural tube defect of the brain and spinal cord, and it is a result of abnormal neural tube development during embryologic development. Abnormal neural development is suspected to be due to a lack of folic acid, which is essential for neural tube development due to exposure to a teratogen, and it can also be genetic. Meningomyelocele causes defects in the vertebral column and skull due to the failure of the neural tube to close during embryonic development.
Meningomyelocele can cause Hydrocephalus, which is a condition characterized by the accumulation of fluid within the brain. When an infant develops meningomyelocele, the brain is located further down close to the spinal cord, which is known as Arnold Chiari II malformation, which obstructs the normal flow of the cerebrospinal fluid which then accumulates causing Hydrocephalus.
PDA occurs when the ductus arteriosus fails to close after birth. Ductus arteriosus is a blood vessel that connects the pulmonary artery to the aorta during embryonic development, and it ensures most blood bypasses the lungs and is directly supplied to the rest of the body. When ductus arteriosus stays open after birth, blood goes from the aorta to the lungs, and this extra blood to the lungs causes blood to build up in the baby’s lungs, which makes it difficult for them to breathe.Later in life, PDA causes pulmonary hypertension and heart failure.
The child presents with hypochromic microcytic anemia, disruptive behavior, reduced IQ, and stunted growth. Lead poisoning causes neurotoxic effects because it can cross the blood-brain barrier, and this explains how it creates the neural effects in the child because in the brain lead causes damage to the prefrontal cerebral cortex,hippocampus, and cerebellum. Lead impairs heme synthesis and causes iron deficiency because high lead levels in lead poisoning cause low levels of serum iron and ferritin, and this is how it causes hypochromic microcytic anemia in the child.
SIDS is likely to be caused by abnormalities in the infant’s ion channels, infection or inflammation and this are known to cause them to be vulnerable, they are exposed to external stresses such as prone sleeping position, and for the SIDS the two factors vulnerability and anxiety have to occur at a critical developmental stage where the factors play a role in causing sleep apnea.
Pituitary dwarfism is a condition characterized by insufficient amounts of growth hormone, and genetic defects, brain injury cause it, or could be congenital where a person is born without the pituitary gland. It causes reduced levels of other hormones associated with the growth hormone, such as vasopressin and gonadotropins, and children with this condition present with short stature with normal body proportions.
Fragile bones characterize OI, and it is a genetic defect that results when a dominant mutation happens on COL1A1 or COL1A2 genes, which code for collagen. The mutation causes the production of abnormal collagen one and decreased production of collagen together with affecting endochondral and intramembranous ossification.
Kawasaki disease is an acute inflammatory disease in children, which is characterized by the coronary artery, and it also frequents the mucocutaneous membranes and lymph nodes. When the condition damages endothelial walls, underlying collagen and tissue factor are exposed, which increases the chances of thrombi formation, weakened artery walls, and fibrin deposition in blood vessel walls as part of healing.
Kawasaki causes coronary aneurysms when it attacks arterial walls and weakens them. During the attacks, lesions form which act as weak points for aneurysm of the coronary arteries.
Asthma is an inflammatory disease affecting the respiratory airways. It causes inflammatory cells in the airways and the lungs. During inflammation, the cells infiltrate the bronchi causing edema and narrowing of the airways causing difficulty in breathing.
Cystic fibrosis is a genetically caused disorder affecting mucous secreting cells, sweat, and digestive juice production. It occurs when the cystic fibrosis transmembrane conductance regulator is mutated, disrupting chloride channel regulation. Chloride channels play a significant role in mucocilliary clearance, and when it is defective, mucus accumulation outside the cell increases, which causes difficulty in breathing and lung infection.
Thick mucus secreted due to mutated CFTR genes clogs the pancreatic duct preventing digestive enzymes from getting to the small intestines to help in the breakdown of food for absorption. Malabsorption due to cystic fibrosis, therefore, cause malnutrition in the patient. The patients also need high calories due to increased energy requirements because they suffer from repeated infections, and they experience difficulties in breathing, which requires more energy.
Idiopathic scoliosis is a deformation of the spinal cord caused by decreased glycosaminoglycan of nucleus pulposus. Decreased proteoglycans affect the elasticity of the spinal cord intervertebral disc, which results in scoliosis.
HUS is characterized by thrombi formation consisting of destroyed platelets in micro blood vessels. The thrombi occur in the kidney vessels causing kidney failure.