Urological Aspects in Patients with Alkaptonuria: A Case-Control Study

Area of Science:

• Urology
• Metabolic Disorders
• Medical Imaging

Background:

• Alkaptonuria (AKU) is a rare inherited disorder.
• AKU is characterized by ochronosis and progressive joint degeneration.
• Urinary tract complications in AKU are not well-documented.

Purpose of the Study:

• To assess urinary tract dynamic function in AKU patients.
• To evaluate the prevalence of stones and calcifications in the urinary tract of AKU patients.
• To compare urinary tract parameters between AKU patients and a control group.

Main Methods:

• Prospective study of 38 patients (17 AKU, 21 controls).
• Uroflowmetry and ultrasonography of kidneys, bladder, and prostate were performed.
• Assessment included bladder volume, peak urinary flow rate, and voiding curve analysis.

Main Results:

• AKU patients exhibited a higher prevalence of prostate calcification (41% vs. 19%) at a younger age.
• Slight, non-statistically significant reductions in peak urinary flow rate and increased post-void residual urine were observed in AKU patients.
• Renal measurements via ultrasonography were comparable between groups.

Conclusions:

• Alkaptonuria is associated with early-onset prostate calcification.
• Subtle alterations in urinary tract function may occur in AKU patients.
• Further research is warranted to understand the long-term urinary implications of AKU.