ABSTRACT
We present a 5-year-old boy with pneumonia who complained of right lumbar pain on the 7(th) day of treatment with Ceftriaxone. Ultrasound examination revealed mild to moderate right hydronephrosis. Under spasmoanalgetic therapy and hydration there was spontaneous passage of three small calculi. Infrared spectroscopy showed that the calculi were composed of calcium-ceftriaxonate. Full metabolic investigation was performed and moderate hypercalciuria was detected, suggesting the role of hypercalciuria in ceftriaxone-associated nephrolithiasis.
ABSTRACT
Rare diseases (RDs) pose a significant set of problems for patients, since their disease and general social and health situation are often not recognized by the medical community and shunned by health insurance. The sheer number of RDs (5000-8000) and the number of patients (6-8% of the population) are challenging for every society. We wanted to get a better understanding of the rare diseases affecting the kidneys and urinary tract (RDAKUT) in the Republic of Macedonia and we investigated principally the PubMed Central articles of Macedonian medical professionals dealing with RDAKUT, but we also used information on RDAKUT from local sources. A significant number of RDs have been published, demonstrating the awareness and skill of Macedonian medical professionals despite pretty limited diagnostic facilities. We still feel that RDAKUT are underdiagnosed (e.g. Fabry's disease has not yet been reported), and that many patients with RDs have a long way to go before an accurate diagnosis. Increased awareness and ameliorated education are needed by the physicians; while health insurance must include RDAKUT covering their diagnosis and treatment costs. Neonatal screening for ~30 diseases (instead of just hypothyroidism) is also required. Patients' organizations exist and they are active in promoting their interests before of the health authorities.
