Introduction: Diabetic nephropathy is a major microangiopathic complication of type 2 diabetes and a leading cause of chronic kidney disease (CKD). Aim: To improve the diagnostic approach to early diagnosis of diabetic nephropathy in patients with type 2 diabetes mellitus. Materials and methods: One hundred fifty patients were divided into three groups. Group 1 consisted of 67 patients with type 2 diabetes mellitus (DM2) and diabetic nephropathy with stage 1 or 2 of CKD. Group 2 included 45 patients with DM2 without clinical and laboratory evidence for diabetic nephropathy. Group 3 had 38 healthy individuals. The polymorphism of the MTHFR C677T and PAI-14G/5G gene was determined by extracted genomic DNA from peripheral blood cells. All patients underwent a real-time PCR reaction. Serum creatinine, MDRD creatinine clearance, albumin/creatinine ratio were examined. Results: The correlation analysis we performed showed a very strong correlation of serum creatinine, creatinine clearance and albumin/creatinine ratio with the C677T polymorphism of the MTHFR gene and the 4G/5G polymorphism of the PAI-1 gene. We used descriptive statistics, ANOVA, and multiple comparisons; the level of significance was set at p<0.05. Conclusions: 1. The presence of the T allele in the MTHFR gene determines the tendency to increase serum creatinine, decrease creatinine clearance, and increase the albumin/creatinine ratio in morning urine; 2. The presence of 4G allele in the PAI-1 gene determines the tendency to increase serum creatinine, decrease creatinine clearance, and increase the albumin/creatinine ratio in morning urine.

Rhabdomyolysis (RM) is characterised by the breakdown of skeletal muscle tissue, releasing toxic intracellular components into circulation. It presents with dark urine, muscle weakness, myalgia, and elevated creatine phosphokinase levels (CPK). Drug-induced RM is aetiologically significant. This case report describes a 25-year-old male who developed severe RM and Acute Kidney Injury (AKI) after intramuscular (IM) heroin administration as a first time user. IM heroin use can induce higher CPK levels due to direct myocyte toxicity and mechanical trauma. The highly vascularised gluteal muscles with type 1 fibres at the injection site likely exacerbated the severity. Additional factors included lower mitochondrial density in males and alcohol exposure. Despite aggressive fluid resuscitation, renal replacement therapy (RRT) was required, and the patient responded well to haemodialysis. This case highlights AKI as a severe complication of IM heroin use, underscoring the need for further research into drug-induced RM.

Транстиретиновата фамилна амилоидна полиневропатия (TTR-FAP) е автозомно доминантно заболяване, причинено от мутации в гена за транстиретин, като най-широко разпространена е мутацията V30M (eдиничната аминокиселинна субституция на метионин за валин на позиция 30). Въпреки, че при всеки транстиретинов вариант има различна клинична картина, преобладават периферната невропатия и кардиомиопатията. Бъбречното увреждане не е толкова често. Първоначално се е смятало, че това заболяване следва доброкачествена еволюция по отношение на бъбреците, по-късно е установено, че прогресия до краен стадий на бъбречно заболяване се среща при 10% от пациентите, като естествен ход на болестта. Откриването и прогнозата на TTR-FAP нефропатията зависят от наличието на албуминурия и повишена концентрация на серумния креатинин. Честа е и вегетативната дисфункция, проявявана като сексуални нарушения или уринарни инфекции. Нефропатията не корелира с възрастта, продължителността на заболяването или тежестта на невропатията. Представяме клиничен случай на пациент с транстиретинова фамилна амилоидна полиневропатия, доказана генетично чрез ДНК анализ, лекуван в отделението по нефрология на УМБАЛ „Св. Георги” – Пловдив за период от 4 години.