Balkan endemic nephropathy: a still unsolved puzzle

Area of Science:

• Nephrology
• Environmental Medicine
• Genetics

Background:

• Balkan endemic nephropathy (BEN) is a chronic tubulointerstitial renal disease endemic to specific regions of the Balkan peninsula.
• Its etiology remains largely unknown, despite various hypotheses.
• The disease affects specific families within endemic areas, suggesting a genetic component.

Purpose of the Study:

• To review current knowledge on the etiology and pathogenesis of Balkan endemic nephropathy.
• To highlight the need for an international collaborative approach to unravel the causes of BEN.
• To encourage reevaluation of similar chronic tubulointerstitial nephropathies globally for etiological links.

Main Methods:

• Review of existing literature and hypotheses regarding BEN etiology.
• Discussion of proposed etiological factors such as viral, ochratoxin, and trace element involvement.
• Analysis of clinical features and epidemiological patterns, including long-term exposure and genetic predisposition.

Main Results:

• Hypotheses regarding etiological factors (e.g., ochratoxin, trace elements) are often region-specific and difficult to confirm universally.
• A minimum of 20 years of exposure to unknown environmental factors in endemic areas appears necessary for disease development.
• Clinical hallmarks include severely shrunken kidneys, disproportionately severe anemia, and slow progression to end-stage renal failure.

Conclusions:

• The complex etiology of BEN likely involves both environmental exposures and genetic predisposition.
• An international, multidisciplinary approach is crucial for future research into BEN's pathogenesis.
• Further investigation into similar tubulointerstitial nephropathies worldwide may reveal shared etiological factors with BEN.