Choice #1: Childhood ALL and G6PD deficiency
Childhood acute lymphocytic leukemia is a type of cancer in where the bone marrow produces too many immature lymphocytes (McCance & Huether, 2014). It is considered to be a cancer of the blood and bone marrow. Most cases of ALL occur in children (80% of ALL), and it is the most common leukemia in children, most often occurring in the first decade (McCance & Huether, 2014). Leukemia can affect white blood cells, red blood cells, and platelets. Being that too many stem cells become lymphoblasts, B lymphocytes, and T lymphocytes, these are considered leukemia cells (McCance & Huether, 2014). Leukemia cells do not work as efficiently as normal lymphocytes in fighting infection. As the number of leukemia cells increases in the blood and bone marrow, there is less space for healthy white blood cells, red blood cells, and platelets (McCance & Huether, 2014). This physiology can lead to infection, easy bleeding, and anemia. There are risks that can increase someones likelihood of having childhood ALL (Metayer et al., 2016). Risks factors include being exposed to x-rays before birth, past treatment with chemotherapy, being exposed to radiation, chromosome abnormalities, and certain genetic conditions such as Down syndrome and Neurofibromatosis type 1 (Metayer et al., 2016). Signs of childhood ALL include bruising, fever, bone or joint pain, weakness, petechiae, loss of appetite, and swollen lymph nodes. Diagnosis of childhood ALL focuses on tests that examine the blood and bone marrow (Metayer et al., 2016). A complete physical exam would be performed. A CBC with differential is helpful in looking at the number of red blood cells, platelets, white blood cells, and hemoglobin (Whitehead et al., 2016). A bone marrow aspiration and biopsy can be performed to have the bone marrow and bone be looked at under a microscope for signs of cancer (McCance & Huether, 2014). A lumbar puncture can be performed to collect a sample of CSF from the spinal column to check for signs of leukemia cells in the brain and spinal cord. The treatment options for children with ALL depend on various factors (Metayer et al., 2016). This includes the age of the child at the time of diagnosis, the risk level of the ALL, whether the leukemia cells began from B or T lymphocytes, and how quickly the leukemia cells respond to treatment (Metayer et al., 2016). The four types of standard treatment include chemotherapy, radiation, chemotherapy with stem cell transplant, and targeted therapy (Metayer et al., 2016). If the type of cancer in the child is rare, a clinical trial might be considered (McCance & Huether, 2014). The treatment of ALL is usually done in three phases: remission induction, consolidation, and maintenance (Whitehead et al., 2016). Remission induction is the first phase of treatment and the goal is to kill the leukemia cells in the blood and bone marrow (Whitehead et al., 2016). This will cause leukemia to be in remission. Consolidation is the second phase of treatment and the goal is to kill any remaining leukemia cells that remain and can cause relapse (Whitehead et al., 2016). The maintenance phase is to kill any remaining leukemia cells that may regrow (Whitehead et al., 2016). In this phase, cancer treatments are given in lower doses and if medication is not taken, this increases the chance of cancer to reoccur (Whitehead et al., 2016).
G6PD stands for glucose-6-phosphate dehydrogenase (McCance & Huether, 2014). G6PD is an enzyme in the body that helps red blood cells work (McCance & Huether, 2014). When there is not enough G6PD in the body this creates a deficiency. The deficiency is a genetic disorder that usually affects African American males (Bubp et al., 2015). G6PD deficiency is inherited and is on the X chromosome (McCance & Huether, 2014). African American females are carriers of this deficiency and can pass the deficiency to their children (Bubp et al., 2015). This enzyme protects red blood cells from substances in the blood that can cause them harm. Without enough G6PD, the red blood cells break apart and this can cause hemolysis which leads to hemolytic anemia (McCance & Huether, 2014). Red blood cells that dont have enough G6PD are sensitive to foods, medicines, and infections. Signs of G6PD deficiency include extreme tiredness, paleness, fast heartbeat, an enlarged spleen, and jaundice (Bubp et al., 2015). Some people will not experience any symptoms at all (Bubp et al., 2015). If G6PD deficiency is suspected, blood tests can be run to confirm the diagnosis (McCance & Huether, 2014). G6PD deficiency is treated simply by removing the trigger. If the child has severe symptoms, inpatient hospital treatment may be required (Bubp et al., 2015).
Choice #1: Childhood acute lymphoblastic leukemia (ALL)
Childhood acute lymphoblastic leukemia (ALL or acute lymphocytic leukemia) is a cancer of the blood and bone marrow. Childhood ALL is a type of cancer in which the bone marrow makes too many immature lymphocytes. ALL is presented in 3.7-4.9 cases per 100,000 children age 0-14 years, with a peak incidence in children aged 2-5 years (Inaba & Mullighan, 2020).
Pathophsyiology
Acute lymphocytic leukemia (ALL) is a malignancy of B or T lymphoblasts characterized by uncontrolled proliferation of abnormal, immature lymphocytes and their progenitors which ultimately leads to the replacement of bone marrow elements and other lymphoid organs resulting in a characteristic disease pattern (Terwilliger & Abdul-Hay, 2017). Studies in the pediatric population have identified genetic syndromes that predispose to a minority of cases of ALL, such as Down syndrome, Fanconi anemia, Bloom syndrome, ataxia telangiectasia and Nijmegen breakdown syndrome (Terwilliger & Abdul-Hay, 2017). Other predisposing factors include exposure to ionizing radiation, pesticides, certain solvents or viruses such as Epstein-Barr Virus and Human Immunodeficiency Virus.
Clinical manifestations
Anemia may cause the child to be more tired, take more naps, look pale, and have an elevated heart rate. The number of red blood cells on a blood count (expressed as “hemoglobin” or “hematocrit”) will be below normal. The bone marrow cannot produce enough platelets, bleeding can occur, especially when the platelet numbers are less than 10-20,000/mm3. Bone and joint pain is usually a result of the bone marrow being crowded with leukemic blasts, which is often mistaken for “growing pains. Children with leukemia often shows non-specific symptoms of infection such as fever and fatigue. Although the blood count of a child with leukemia may show a high number of white blood cells, these cells are immature and do not normally fight infection. As a result, the child may have difficulty recovering from an ordinary childhood infection or may develop unusual infections. Leukemia cells can collect in the kidneys, liver and spleen, causing enlargement of these organs which can cause pain in the abdomen, this pain may lead to loss of appetite and weight loss. Leukemia cells often collect in the nodes, causing swelling. This mass of cells can cause difficulty breathing.
Evaluation
The diagnosis of acute lymphoblastic leukemia in children is based on a complete medical history and physical examination, X rays, CBC, and bone marrow aspirates and biopsies.
Treatment
Long-term survival approaches 90% for standard-risk pediatric ALL (Inaba & Mullighan, 2020). Treatments used to achieve this range from Intrathecal medications/chemotherapy, radiation therapy, blood transfusion, antibiotics, and bone marrow transplant.
G6PD
G6PD deficiency is an inherited condition. It is when the body doesn’t have enough of an enzyme called G6PD (glucose-6-phosphate dehydrogenase). This enzyme helps red blood cells work correctly. A lack of this enzyme can cause hemolytic anemia. In non layman terms, the central roles of glucose-6-phosphate dehydrogenase (G6PD) are the production of ribose and the reducing equivalent nicotinamide adenine dinucleotide phosphate (NADPH) via the pentose phosphate pathway (PPP). Both products are vital for the synthesis of many biological building blocks, such as nucleic and fatty acids (Yang et al., 2019).
Pathophysiology
The G6PD enzyme is critical to the conversion of nicotinamide adenine dinucleotide phosphate (NADP) to nicotinamide adenine dinucleotide phosphate hydrogen (NADPH) during cellular metabolism within the pentose phosphate pathway (Yang et al., 2019). The conversion of NADP to NADPH is critical for the production of glutathione, an important antioxidant that helps protect erythrocytes against oxidative stress. In G6PD-deficient cells, hemolysis can occur in response to free radicals and reactive oxygen species created by stressors such as infection, certain foods and medications, and even diet or lifestyle choices
Clinical manifestations
G6PD manifestations include acute hemolytic anemia, chronic hemolytic anemia, neonatal hyperbilirubinemia, rapid heart rate, shortness of breath, urine that is dark or yellow-orange, fever, fatigue, dizziness, paleness, and jaundice.
Evaluation
A simple blood test to check G6PD enzyme levels can be done. Other diagnostic tests that may be done include a complete blood count, serum hemoglobin test, and a reticulocyte count. In the United States, screening should be considered in newborns that have severe jaundice resistant to phototherapy or who have a family history or ethnicity suggestive of G6PD deficiency. The most common screening method includes a rapid fluorescent spot test to detect the generation of NADPH from NADP. Screening can also be performed by quantitative spectrophotometric analysis.
Treatment
Treatment for G6PD deficiency deficiency involves avoiding foods and medications that can trigger the condition. Reducing stress levels can also help in controlling symptoms. Once G6PD deficiency has progressed to hemolytic anemia, however, more aggressive treatment may be required. This sometimes includes oxygen therapy and a blood transfusion to replenish oxygen and red blood cell levels.
