Search

Hypophosphatemic osteomalacia is a rare condition caused by different causes, all resulting in disturbances of calcium-phosphate management. One of the most common causes among adults is tumor-induced osteomalacia, which is characterized by increased secretion of fibroblast growth factor-23. Its symptoms are vague, tests necessary for diagnosis are not commonly used by clinicians and some of them are only available in highly specialized centers. Due to these reasons, patients often are misdiagnosed for more common conditions and are left without proper treatment for many years. We present a case of a patient suffering from multiple fractures, diffuse bone pain, and muscle weakness, who was previously misdiagnosed for osteoporosis, primary and secondary hyperparathyroidism. We discuss the pathophysiology of tumor-induced osteomalacia, diagnostic path, differential diagnosis, available forms of treatment and possible complications. [ABSTRACT FROM AUTHOR]

Primary hyperparathyroidism is a common endocrine disorder. It is characterised by elevated parathyroid hormone (PTH) level causing hypercalcemia. 90-95% of cases have a spontaneous cause, with the remaining 5-10% having a genetic basis. On routine examination, a 47-year-old patient was found to have hypercalcemia, vitamin D deficiency, normal PTH levels and no hypercalciuria. Despite vitamin supplementation, calcemia remained unchanged. Single photon emission computed tomography (SPECT) examination detected possible adenomas in the lower parathyroids regions, and ultrasound revealed an adenoma of the lower left parathyroid gland and hypertrophy of the lower right parathyroid gland. The atypical clinical presentation - young age, inadequate normal PTH levels and the location of the lesions within the two parathyroid glands suggested genetic testing, which confirmed the presence of a genetic mutation - the GCM2 variant. Treatment included exploration of the parathyroid area using fluorescence. Both lower parathyroid glands were dissected. PTH monitoring showed a decrease in baseline levels of more than 50% after surgery. One month after surgery, PTH and calcium levels remained normal. Primary hyperparathyroidism is usually asymptomatic, detected when laboratory tests are performed for another cause. Symptoms include nephrolithiasis, bone and joint pain, osteoporosis, arrhythmias and fatigue. The typical patient has high PTH levels and hypercalcemia, but not every case will be schematic. High serum calcium levels do not always result in increased PTH levels and an in-depth diagnosis is required. The GCM2 mutation, detected in the patient presented here, may occur in familial isolated hyperparathyroidism. Correct diagnosis and treatment is crucial not only for the patient, as it significantly improves their quality of life, but also for their family members, who may also have a genetic mutation and be unaware of the disorder developing in their body. [ABSTRACT FROM AUTHOR]

Burns are a significant cause of morbidity and mortality in children. While the majority of pediatric burns are not life-threatening, they can have a significant impact on a child's physical and psychological health. They pose a major social and financial burden, particularly in developing countries. The management of pediatric patients with thermal injuries requires a complex and multifaceted approach. Pediatric burns constitute approximately 40-50% of all reported cases of severe burns. The most common etiologies of pediatric burns include scalds, contact burns, flames, and chemicals. From 80% to 90% of burns occurred at home and were accidental. Despite advancements in treatment, severe burns can lead to life-threatening complications, such as sepsis, multisystem organ failure, and hypermetabolic response or even death. This article aims to provide a literature-based overview of pediatric burn trauma, outlining its unique characteristics, etiology, epidemiology, classification, and initial management. [ABSTRACT FROM AUTHOR]