DQ reply 11 634

Question 1

Wilm’s Tumor Summarize and discuss the clinical characteristics and identify the appropriate laboratory, imaging, and other diagnostic and screening tools that apply to this condition or disorder. Why did you select these tests or tools as being appropriate to this scenario? Support your summary and recommended plan with a minimum of two peer-reviewed references in addition to the course materials.

Question 2

Imagine a patient comes into your office with your selected condition or disorder. What elements in the patient history and physical exam would indicate the patient has the selected condition or disorder? Select two differential diagnoses that could be applied to this patient. How did you arrive at the two differential diagnoses? Include history and physical examination findings that would support each of the two alternative diagnoses.

DQ-1

Osteogenesis imperfecta (OI) is a group of genetic disorders affecting the connective tissue resulting in bone fragility, which is also called brittle bone disease. The greatest risk factor for OI is hereditary. OI type I and IV are inherited as autosomal dominant while type II and III are autosomal recessive (Subramanian & Viswanathan, 2020). Genetic alterations affect the structures and tissues that contain collagen causing fragility, deformity, osteoporosis, short stature, fractures, gray or bluish sclerosis, dental problems, deafness, joint hypermobility, and chronic pain (Tatlock, Edwards, Imel, & Foli, 2018). Milder manifestations include laxity, easily bruising, hernias, and excessive sweating. The most common form of OI is type I and is often misdiagnosed; therefore, a clinical diagnosis of OI requires a detailed assessment.

Lab tests may include vitamin D level, alkaline phosphatase, serum calcium, creatinine, and phosphorus, in which the only abnormal lab would include vitamin D deficiency (Tatlock et al., 2018). Plain radiography should be obtained for possible fractures. Although, there may be the presence of old fractures (ribs, upper/lower extremities), excessive callus formation, pectus excavatum/carinatum, and Wormian bones of the skull which are extra small bones that lie between the cranial sutures. A DEXA scan should be performed to measure bone density and mass and soft tissue composition as bone mineral density is typically low in patients with OI (Subramanian & Viswanathan, 2020). Genetic testing can be done for collagen mutations in COL1A1 or COL1A2.

References

Subramanian, S., & Viswanathan, V. K. (2020). Osteogenesis imperfecta. StatPearls Publishing. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK536957/#_NBK536957_pubdet_

Tatlock, R. L., Edwards, N., Imel, E. A., & Foli, K. J. (2018). Osteogenesis imperfecta type I: Recognition in primary care. Journal for Nurse Practitioners, 14(6), 470-476. doi:10.1016/j.nurpra.2018.03.005

DQ-2

Croup is a common respiratory illness affecting 3% of children from age six months to three years of age. Approximately, 7% of children less than five years of age are hospitalized for fever and/or acute respiratory illness(Hanna et al., 2019). Viral croup often presents similarly to an upper respiratory infection within 12 to 72 hours patient can experience low-grade fever and rhinitis. Narrowing of the larynx leads to stridor, increased respiratory rate, respiratory retractions and a barking cough. Symptoms may be exacerbated by emotional distress which tend to be worse at night, peaking between 24 and 48 hours. Fortunately, croup typically resolves spontaneously within 48 hours to one week. Stridor can be associated with acute epiglottitis, bacterial tracheitis, and foreign body airway obstruction (Smith et al., 2018).

Laboratory studies are seldom needed to diagnose croup. Viral cultures and rapid antigen testing should be reserved for patients in which the initial treatment was ineffective. A complete blood count can help distinguish croup from bacterial etiologies of stridor such as bacterial tracheitis, epiglottitis, peritonsillar abscess and retropharyngeal abscess. Lymphocytosis can suggest a viral etiology (Petrocheilou, 2014). A carboxyhemoglobin level may be helpful in identifying cases of thermal injury/smoke inhalation, but the history alone is typically sufficient for this diagnosis.

Radiographic imaging is not routinely indicated for croup but often associated with the steeple sign. The steeple sign is a radiologic sign found on a frontal neck radiograph where subglottic tracheal narrowing produces the shape of a church steeple within the trachea itself. This finding is neither specific nor sensitive for croup and may be present in patients with epiglottitis, bacterial tracheitis, neoplasm, or thermal injury. Computed tomography of the neck can be considered for patients with suspected abscess, tumor, or foreign body aspiration. Laryngoscopy should be reserved for atypical presentations or when alternate diagnoses are suspected. If epiglottitis is suspected, laryngoscopy must be performed with caution because of concern for rapid airway obstruction(Smith et al., 2018).

Reference

Hanna, F., Lee, B., Drummond, D., Warren, B.,Yunker, K. (2019). Defining atypical croup: A case report and review of the literature. Retrieved from https://doi.org/10.1016/j.ijporl.2019.109686.

DQ-3

Hemolytic uremic syndrome (HUS)is one of the leading causes of acute renal injury in the pediatric population and can be a life-threatening condition requiring prompt diagnosis and treatment. It is characterized by the triad of thrombotic microangiopathy, thrombocytopenia, and acute kidney injury. HUS It Thrombotic microangiopathy results from platelet consumption leading to thrombocytopenia, nonimmune hemolytic anemia (Coombs negative), and acute renal injury (Siegler & Oakes, 2015).

Patient presentation differs and is based on different causes, which requires a thorough history and physical. According to Siegler and Oakes (2015), more than 90% of the typical HUS is caused by Shiga toxin-producing E. coli., causing patients to present with a fever, abdominal pain, nausea, vomiting, and diarrhea. Diarrhea is often bloody and is within 3 days of diarrhea onset, which is typically secondary to colitis from the invasion of the gastrointestinal cells or ischemia related to a vascular lesion. After a week of gastrointestinal symptoms, patients may start to develop symptoms more closely related to the triad that defines HUS, specifically, symptoms related to anemia such as syncope, shortness of breath, jaundice, and kidney impairment. The skin exam may show small ecchymosis and mucosal bleeding. Late in the course of the infection, patients may develop seizures and encephalopathy related to ongoing uremia and other electrolyte imbalances. In rare cases, the colitis can be severe enough to cause intestinal necrosis and perforation (Canpolat, 2015).

The diagnosis of HUS requires a high index of suspicion based on symptoms, travel history, and dietary history. A peripheral smear typically reveals characteristic schistocytes, with a negative Coombs test that is consistent with mechanical hemolysis. The CMP also may reveal elevated creatinine and acute hemolysis with elevated indirect bilirubin and elevated lactate dehydrogenase. As the disease progresses, hyponatremia and hyperkalemia may develop as the patient enters into renal failure. Urinalysis typically reveals hematuria and proteinuria. Treatment includes adjustment of fluid and electrolyte balance, plasma infusions, control of blood pressure, and dialysis (Siegler & Oakes, 2015).

 

Canpolat N. (2015). Hemolytic uremic syndrome. Turk pediatri arsivi, 50(2), 73–82. https://doi.org/10.5152/tpa.2015.2297

Siegler, R., & Oakes, R. (2015). Hemolytic uremic syndrome; pathogenesis, treatment, and outcome. Current opinion in pediatrics, 17(2), 200–204. https://doi.org/10.1097/01.mop.0000152997.66070.e9