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[Alkaptonuria, prostatic calculi, and ectopic ureter]

T Concepción Masip1, F Bañares Baudet, M L Traba

  • 1Servicio de Urología del Hospital Universitario de Canarias, Facultad de Medicina de la Universidad de la Laguna, Santa Cruz de Tenerife.

Actas Urologicas Espanolas
|February 1, 1997
PubMed
Summary

Alkaptonuria, a rare metabolic disorder, can present with unusual complications like giant prostate stones. This case highlights successful surgical management of these rare co-occurring conditions.

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Area of Science:

  • Biochemistry
  • Genetics
  • Urology

Background:

  • Alkaptonuria (AKU) is a rare autosomal recessive metabolic disorder caused by a deficiency of the enzyme homogentisic acid oxidase.
  • This deficiency leads to the accumulation of homogentisic acid (HGA) and its oxidized metabolites, causing ochronosis (pigmentation of connective tissues) and potentially leading to degenerative arthritis.
  • The case involves a patient with AKU presenting with lower urinary obstructive symptoms.

Observation:

  • A 57-year-old male with early-stage connective tissue disease due to AKU sought medical attention for symptoms of benign prostate hyperplasia.
  • Diagnostic workup revealed giant prostate lithiasis, an unusual complication in this patient population.
  • The patient also had a dual left excretory system with an ectopic ureter.

Findings:

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  • Surgical intervention included retropubic adenomectomy, removal of giant prostate calculi, and reimplantation of the ectopic ureter.
  • The patient experienced a completely successful clinical outcome post-surgery.
  • This case underscores the diverse and sometimes unexpected clinical manifestations of alkaptonuria.

Implications:

  • This rare clinical presentation emphasizes the importance of considering metabolic disorders like AKU in patients with atypical urological conditions.
  • The successful surgical management highlights the feasibility of addressing complex urological issues even in the presence of rare metabolic diseases.
  • Further research and case reporting are crucial for a comprehensive understanding of AKU's clinical spectrum and therapeutic strategies.