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06:33
Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Lower urinary tract dysfunction in familial amyloidotic polyneuropathy, Portuguese type
1Dept. of Physical Medicine and Rehabilitation, Hospital Geral de Sto. António Largo da Escola Médica, 4000 Porto, Portugal. mjandrade@icbas.up.pt
Neurourology and Urodynamics
|December 18, 2008
Summary
Familial amyloidotic polyneuropathy (FAP) causes significant lower urinary dysfunction, including detrusor issues and sphincter abnormalities. Early intervention is crucial to prevent secondary urinary tract injuries.
Area of Science:
- Urology
- Neurology
- Genetics
Background:
- Familial amyloidotic polyneuropathy (FAP) is a rare genetic disorder.
- Lower urinary dysfunction is a common but understudied complication of FAP.
Purpose of the Study:
- To investigate the prevalence and characteristics of lower urinary dysfunction in FAP patients.
- To identify the underlying mechanisms of urinary dysfunction in FAP.
Main Methods:
- Fifty-four FAP patients underwent clinical examination, urodynamics, and urinary tract ultrasound.
- Detailed analysis of urinary symptoms, bladder function, and sphincter activity was performed.
Main Results:
- Urinary symptoms like dysuria and incontinence appeared early in FAP patients.
- Urodynamic findings included detrusor underactivity, non-relaxing urethral sphincter, and dyssynergia.
- Ultrasound revealed bladder wall thickening and abnormal vesical neck opening in a significant proportion of patients.
Conclusions:
- FAP leads to complex lower urinary dysfunction due to amyloid deposition affecting the detrusor and sphincters.
- Incontinence and retention result from a combination of detrusor underactivity, sphincter abnormalities, and bladder overdistention.
- Prompt therapeutic interventions are essential to mitigate urinary complications and prevent irreversible damage in FAP patients.
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