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Introduction:For diagnosing acute pyelonephritis, a comprehensive patient history is collected to identify symptoms such as dysuria, frequent or urgent urination, flank pain, or costovertebral angle (CVA) tenderness that may suggest a kidney infection.Physical ExaminationDuring the physical examination, CVA tenderness is assessed. This involves gentle percussion over the costovertebral angle, where tenderness often indicates a kidney infection.Diagnostic TestsUrinalysis: Used to identify white...
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Alkaptonuria and Cervical Disc Herniation: Case Report.

Francisco de Assis Ulisses Sampaio Júnior1, Oscar L Alves2, Francisco Ricardo Borges Ribeiro1

  • 1Spine Department, Sirio-Libanês Hospital, São Paulo, Brazil.

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|November 17, 2025
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Summary
This summary is machine-generated.

Alkaptonuria (AKU) causes ochronotic arthropathy due to homogentisic acid buildup. Surgical intervention for spinal complications, like disc herniation, can offer symptomatic relief in advanced cases.

Keywords:
alkaptonuriaochronosisspinal arthropathy

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Area of Science:

  • Biochemistry
  • Genetics
  • Orthopedic Surgery

Background:

  • Alkaptonuria (AKU) is a rare autosomal recessive metabolic disorder.
  • Caused by homogentisate 1,2-dioxygenase deficiency, leading to homogentisic acid accumulation.
  • Homogentisic acid deposits in connective tissues, causing ochronotic arthropathy.

Purpose of the Study:

  • To enhance understanding of spinal column pathophysiology in AKU.
  • To explore optimal surgical therapy strategies for spinal complications in AKU.

Main Methods:

  • Case presentation of a 35-year-old male diagnosed with AKU.
  • Diagnostic workup included urine analysis and cervical spine MRI.
  • Surgical intervention: C5-C6 discectomy and anterior arthrodesis.

Main Results:

  • Patient presented with acute C5-C6 disc herniation and cervical pain.
  • Intraoperative observation of an ochronotic-pigmented disc.
  • Postoperative improvement in elbow flexion strength.

Conclusions:

  • Currently, no definitive treatment for AKU exists; nitisinone shows potential but has side effects.
  • Symptomatic treatment is key for ochronotic arthropathy.
  • Surgery is reserved for advanced degenerative cases and can provide relief.