Urinary Disorders and Marfan Syndrome: A Series of 4 Cases

Hentzen, Claire; Turmel, Nicolas; Chesnel, C.; Breton, F. Le; Ismaël, Samer Sheikh; Amarenco, G.

doi:10.1159/000484696

Cited by 4 publications

(2 citation statements)

References 9 publications

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“…Although not proven, it seems likely that urinary incontinence and other voiding dysfunctions may occur at an early stage and to a severe degree in both women and men affected by the malady. However, it has been indicated that chronic lower urinary tract symptoms in patients with MS are due mainly to complications following aortic surgery or are caused by the compression of sacral nerve roots [11,12].…”

Section: General Mechanisms In the Pathophysiology Of Fibrotic Diseasesmentioning

confidence: 99%

Fibrotic Diseases of the Human Urinary and Genital Tract: Current Understanding and Potential Strategies for Treatment

Rahardjo

Märker

Tsikas

et al. 2023

JCM

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Fibrosis is a disease condition characterized by abnormalities of the extracellular matrix, such as accumulation of the transforming growth factor β, infiltration by myofibroblasts, deposition of collagen, and a generalized dysregulation of collagen maturation. It can severely impair the function of organs by replacing normal tissue with a highly collagenized matrix, thereby reducing the elasticity and compliance of tissues. Fibrotic diseases of the genitourinary tract present relevant problems in healthcare, and their principles of pathophysiology remain unclarified; hence, the armamentarium for prevention and treatment is limited. These diseases include renal fibrosis, Peyronie’s disease and ureteral and urethral strictures due to perturbations in the process of wound healing in response to injuries. Such deteriorations may contribute to obstructive uropathies or sexual dysfunction. This review provides a brief overview of the most frequent fibrotic diseases of the genitourinary system and of how the pathophysiology is related to symptoms, and also highlights potential therapeutic strategies to address the abnormal deposition of collagen. Although the understanding of factors associated with fibrotic conditions of the urinary and genital tract is still limited, some beneficial advances have been made. Further research will serve to provide a more comprehensive insight into factors responsible for the development of fibrotic tissue deposition.

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Section: General Mechanisms In the Pathophysiology Of Fibrotic Diseasesmentioning

confidence: 99%

Fibrotic Diseases of the Human Urinary and Genital Tract: Current Understanding and Potential Strategies for Treatment

Rahardjo

Märker

Tsikas

et al. 2023

JCM

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show abstract

“…• Urinary disorders are not frequent in Marfan syndrome, and apart from urinary incontinence, no studies describe other chronic urinary tract symptoms or increased urinary tract infection in patients with Marfan syndrome. One paper describes four patients with urinary problems secondary to vascular or neurological complications related to Marfan syndrome [256]. • We have found one paper describing a case of seminoma in Marfan syndrome [257].…”

Section: Expert Opinion On Patients' Reported Symptomsmentioning

confidence: 99%

Features of Marfan syndrome not listed in the Ghent nosology – the dark side of the disease

Kodolitsch

Demolder

Girdauskas

et al. 2019

Expert Review of Cardiovascular Therapy

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Introduction: The revised Ghent nosology presents the classical features of Marfan syndrome. However, behind its familiar face, Marfan syndrome hides less well-known features. Areas covered: The German Marfan Organization listed unusual symptoms and clinical experts reviewed the literature on clinical features of Marfan syndrome not listed in the Ghent nosology. Thereby we identified the following features: (1) bicuspid aortic valve, mitral valve prolapse, pulmonary valve prolapse, tricuspid valve prolapse, (2) heart failure and cardiomyopathy, (3) supraventricular arrhythmia, ventricular arrhythmia, and abnormal repolarization, (4) spontaneous coronary artery dissection, anomalous coronary arteries, and atherosclerotic coronary artery disease, tortuosity-, aneurysm-, and dissection of large and medium-sized arteries, (5) restrictive lung disease, parenchymal lung disease, and airway disorders, (6) obstructive-and central sleep apnea, (7) liver and kidney cysts, biliary tract disease, diaphragmatic hernia, and adiposity, (8) premature labor, and urinary incontinence, (9) myopathy, reduced bone mineral density, and craniofacial manifestations, (10) atrophic scars, (11) caries, and craniomandibular dysfunction, (12) headache from migraine and spontaneous cerebrospinal fluid leakage, (13) cognitive dysfunction, schizophrenia, depression, fatigue, and pain, (14) and activated fibrinolysis, thrombin, platelets, acquired von Willebrand disease, and platelet dysfunction. Expert commentary: Future research, nosologies, and guidelines may consider less well-known features of Marfan syndrome. ARTICLE HISTORY

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Quantitative measurement of dural ectasia: associations with clinical and genetic characteristics in Marfan syndrome

Vornetti,

Vara,

Baroni

et al. 2024

Eur Spine J

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Urinary Disorders and Marfan Syndrome: A Series of 4 Cases

Cited by 4 publications

References 9 publications

Fibrotic Diseases of the Human Urinary and Genital Tract: Current Understanding and Potential Strategies for Treatment

Fibrotic Diseases of the Human Urinary and Genital Tract: Current Understanding and Potential Strategies for Treatment

Features of Marfan syndrome not listed in the Ghent nosology – the dark side of the disease

Quantitative measurement of dural ectasia: associations with clinical and genetic characteristics in Marfan syndrome

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