Balkan endemic nephropathy

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Balkan endemic nephropathy (BEN) is a chronic, progressive kidney disease that primarily affects rural populations in certain regions of the Balkans. The disease is characterized by a slow progression to end-stage renal disease (ESRD) and is often associated with upper urothelial carcinoma.

Epidemiology

Balkan endemic nephropathy is predominantly found in rural areas of Bosnia and Herzegovina, Bulgaria, Croatia, Romania, and Serbia. The disease has a familial clustering pattern, suggesting a possible genetic predisposition, although environmental factors are also believed to play a significant role.

Etiology

The exact cause of BEN remains unknown, but several hypotheses have been proposed. One of the leading theories involves chronic exposure to aristolochic acid, a compound found in certain plants of the Aristolochiaceae family. This compound is known to be nephrotoxic and carcinogenic. Other potential factors include exposure to mycotoxins, heavy metals, and other environmental toxins.

Pathophysiology

The pathophysiology of BEN involves chronic interstitial nephritis, which leads to progressive renal fibrosis and atrophy. The disease primarily affects the renal cortex and is characterized by tubular atrophy, interstitial fibrosis, and glomerulosclerosis. The progression to ESRD is slow but inevitable in affected individuals.

Clinical Features

Patients with BEN typically present with non-specific symptoms such as fatigue, loss of appetite, and weight loss. As the disease progresses, signs of chronic kidney disease (CKD) become more apparent, including hypertension, anemia, and electrolyte imbalances. The association with upper urothelial carcinoma is a significant clinical feature, and regular screening for this malignancy is recommended in affected populations.

Diagnosis

The diagnosis of BEN is primarily based on clinical and epidemiological criteria, including a history of residence in endemic areas and a family history of the disease. Laboratory tests typically show evidence of chronic kidney disease, and imaging studies may reveal small, atrophic kidneys. A definitive diagnosis often requires a renal biopsy, which shows characteristic histopathological features.

Management

There is no specific treatment for BEN, and management primarily focuses on slowing the progression of kidney disease and managing complications. This includes controlling blood pressure, managing anemia, and addressing electrolyte imbalances. Patients with ESRD require renal replacement therapy, such as dialysis or kidney transplantation.

Prevention

Preventive measures are challenging due to the unknown etiology of BEN. However, reducing exposure to potential environmental toxins, such as aristolochic acid, may help decrease the incidence of the disease. Public health initiatives aimed at improving living conditions and reducing exposure to known nephrotoxins are also important.

Research

Ongoing research is focused on identifying the exact cause of BEN and developing targeted prevention and treatment strategies. Studies are also exploring the genetic factors that may predispose individuals to the disease.

See also

• Chronic kidney disease
• End-stage renal disease
• Urothelial carcinoma
• Aristolochic acid nephropathy