Fragile X syndrome is a dominantly inherited genetic disease and is a consequence of the FMR1 gene mutation located on the X chromosome. The number of patients affected by this disease with full mutation is estimated at 1 in 4000 men and 1 in 8000 women, however, the number of carriers with premutation is far greater. Depending on the mutation of the FMR1 gene and levels of its products FMRP a variety of symptoms can be observed including- intellectual disability, mental retardation, lowered behavioral adaptation, autism, and dysmorphic features such as a long face with a broad forehead and prominent ears. The treatment is mostly symptomatic- managing comorbidities and an emphasis on psychological therapy. The objective of this paper is to sum up the most up-to-date knowledge regarding the pathogenesis, treatment- current and clinically tested, and novelties in the Fragile X syndrome

Introduction Tubulointerstitial nephritis with uveitis (TINU syndrome) is a rare condition which mainly affects young females. The pathomechanism of the TINU has not been still well understood but autoimmune background is suspected. Although it was first described in 1975, less than 600 cases have been reported so far. Aim of the study The aim of the study is to present the current knowledge about the TINU syndrome. Material and methods The article was created based on the PubMed database. Articles were searched in English using the following keywords: TINU syndrome, tubulointerstitial nephritis, uveitis. Results TINU syndrome occurs in 0.1-2% of patients with uveitis with no ethnic preferences. It has been linked to a number of potential causes including infectious, genetic, and jatrogenic factors. Clinical manifestation is often atypical what leads to underdiagnosis of disease. There are currently no established specific guidelines on the basis of which a diagnosis of TINU syndrome can be made. Therapy includes topical treatment and systemic corticosteroid therapy. The overall prognosis for patients is favorable, but it is possible to develop chronic kidney disease especially in adults. Summary: TINU syndrome remains a poorly understood disease and is often not taken into account in the diagnostic process. The lack of general treatment standards means that therapy is not always effective. Further research is needed to establish guidelines for the management of this disease.

Obesity is a disease that is diagnosed in an increasing number of people around the world. Its development is influenced by many factors, both environmental and genetic. It leads to the development of further diseases, thus contributing to a reduction in life expectancy. There are many methods used to treat overweight and obesity. The most important element of the therapeutic process is a reduced diet and physical activity. However, it is often not sufficient, therefore it is becoming more and more common to introduce pharmacotherapy into treatment. One drug is dulaglutide (Trulicity), a GLP-1 analog with promising results. It was included in the treatment of a 49-year-old patient who was diagnosed with morbid obesity. The patient had been struggling with obesity since childhood, and the previously used methods of weight reduction did not bring satisfactory results. After switching to Trulicity (1.5 mg / 0.5 mL s.c.) taken once a week, it was possible to achieve a significant decrease in body weight and the well-being of the patient. If it is officially registered in the treatment of this disease in the future, there is a chance that the results of therapy will improve in many patients.

Cushing’s Disease is caused by pituitary adenoma which produces adrenocorticotropic hormone causing hypercortisolemia. First-line treatment involves operative removal of the tumor, however, in some patients it proves ineffective. In those cases, pharmacological treatment is necessary as untreated Cushing’s Disease may be lethal. In 2020 a new steroidogenesis inhibitor – Osilodrostat - was approved by the European Medicines Agency and can be used in the treatment of patients who cannot undergo pituitary surgery or whose previous surgical treatment proved ineffective. We present a case of a 26-year-old female patient who was diagnosed with endogenous Cushing’s Disease and underwent two consecutive operations to remove the tumor - both were ineffective. With deteriorating laboratory results and other pharmacological treatments exhausted Osilodrostat therapy was introduced. Osilodrostat is becoming an important drug in patients with Cushing’s Disease refractory to other treatments.