Herein, we present a case of an adolescent girl with proteinuria and hematuria in the setting of a strong family history of AL. [uncch.pure.elsevier.com]

The aim of the present study was to evaluate the prognostic value of residual collagen IV chain expression in the GBM of patients with X-AS. [ncbi.nlm.nih.gov]

Eighty five percent of the affected adult males present with dot-and-fleck retinopathy and the rest of the patients present with anterior lenticonus 1. [scielo.br]

Hematuria, usually microscopic, was the presenting symptom in 81% of male patients and was present in all of them during the course of the disease. It was associated with proteinuria in 95% of patients. [jasn.asnjournals.org]

Serologic workup was negative for anti-nuclear antibody, hepatitis B surface antigen, hepatitis C antibody and HIV Based on the family history, the pattern of inheritance was consistent with autosomal dominant. [omicsonline.org]

If there are five or more red blood cells on repeated examination, further workup depends on whether there is a family history of confirmed Alport syndrome and the proband fits into an X-linked or autosomal recessive transmission pattern. [renalandurologynews.com]

Clinical Testing and Workup The diagnostic approach to confirming a suspected diagnosis of Alport syndrome has been evolving over the past decade. [rarediseases.org]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

CONCLUSION: Most Chinese XLAS families show positive attitudes and desire new discoveries in treatment and diagnosis. [ncbi.nlm.nih.gov]

Both males and females who begin treatment early can see delayed disease progression. Males will pass the gene to every daughter but to none of their sons, while females have a 50:50 chance with each pregnancy of passing on the gene to their child. [alportsyndrome.org]

For a close long-term follow-up, the early detection and treatment of women with X-linked AS are important. [jstage.jst.go.jp]

IMPORTANCE: Optical coherence tomography (OCT) findings of temporal macular thinning are important in the diagnosis and prognosis of X-linked Alport syndrome (XLAS). [ncbi.nlm.nih.gov]

Because of the absence of genotype-phenotype correlation and the large intrafamilial phenotypic heterogeneity, early prognosis of the disease in X-linked Alport syndrome carriers remains moot. [lup.lub.lu.se]

ESKD: occurs at an average age of 16-37 years. [ 7 ] Prognosis Prognosis depends on the type of inheritance, the sex of the patient and the type of mutations in type IV collagen genes. [patient.info]

Keywords: Corneal dystrophy; hereditary/etiology; Retinal diseases/etiology; Lens diseases/etiology; Nephritis, hereditary/complications; Hematuria RESUMO Descrevemos um paciente de 6 anos de idade com história de hematúria, distrofia corneana polimorfa [scielo.br]

Etiology Diffuse leiomyomatosis with Alport syndrome is due to a deletion involving the 5' terminal region of both COL4A5 and COL4A6 (as such, it forms a contiguous gene syndrome). [orpha.net]

Etiology Pathophysiology Genetic defect of alpha type IV collagen chains (component of the basement membrane of the kidneys, eye, and cochlea ) kidney damage, sensorineural hearing loss, and ocular abnormalities Clinical features Often asymptomatic Initially [amboss.com]

Therefore, knowledge of the etiology, pathology, and diagnosis of this disorder is important to pediatricians who encounter hematuria frequently. [pedsinreview.aappublications.org]

DISEASE ENTITY 1.1 Disease 1.2 Etiology 1.3 Risk factors 1.4 General Pathology 1.5 Pathophysiology 1.6 Primary prevention 2.DIAGNOSIS 2.1 History 2.2 Physical examination 2.3 Symptoms 2.4 Ocular Symptoms 2.5 Clinical diagnosis 2.6 Diagnostic procedures [eyewiki.aao.org]

Summary Epidemiology Prevalence is estimated at 1 per million. Clinical description Alport syndrome (AS) is defined by glomerular nephropathy with hematuria, progressing to end-stage renal disease, associated with sensorineural deafness. [orpha.net]

Epidemiology Epidemiological data refers to the US, unless otherwise specified. [amboss.com]

Background Epidemiology Incidence – 1/5,000-50,000 births Age – variable Autosomal recessive – earliest onset X linked – later onset, but earlier than autosomal dominant form Autosomal dominant – middle-age onset Sex M F for X-linked Alport syndrome – [arupconsult.com]

However, eventually there is the onset of proteinuria associated with the classic and progressive irregular thickening, thinning and splitting of the GBM, which culminates in end-stage kidney disease (ESKD). [ 2 ] Epidemiology Alport's syndrome (AS) is [patient.info]

Pajari H, Kääriäinen H, Muhonen T, Koskimies O (1996) Alport’s syndrome in 78 patients: Epidemiological and clinical study. Acta Paediatr 85, 1300–1306 PubMed CrossRef Google Scholar 35. [link.springer.com]

Pathophysiology Recent advances in study of the cellular and molecular biology of proteins of the basement membrane have been instrumental in clarifying the pathophysiology of Alport syndrome. [astor.ahc.umn.edu]

Etiology Pathophysiology Genetic defect of alpha type IV collagen chains (component of the basement membrane of the kidneys, eye, and cochlea ) kidney damage, sensorineural hearing loss, and ocular abnormalities Clinical features Often asymptomatic Initially [amboss.com]

Alport Syndrome Genetics and Inheritance Alport Syndrome Pathophysiology [news-medical.net]

[…] hematuria, and there may be an increased lifetime risk of ESRD (probability of developing ESRD by age 60 is 30%) Carriers are better described as “affected” (Savige, 2013) because they exhibit signs/symptoms 10-15% of affected males have de novo variants Pathophysiology [arupconsult.com]

DISEASE ENTITY 1.1 Disease 1.2 Etiology 1.3 Risk factors 1.4 General Pathology 1.5 Pathophysiology 1.6 Primary prevention 2.DIAGNOSIS 2.1 History 2.2 Physical examination 2.3 Symptoms 2.4 Ocular Symptoms 2.5 Clinical diagnosis 2.6 Diagnostic procedures [eyewiki.aao.org]

This finding supports the hypothesis that abnormalities in the alpha 5 (IV) chain may prevent normal incorporation of the alpha 3 (IV) chain into the glomerular basement membrane. [ncbi.nlm.nih.gov]

Our findings confirmed, that girls with XLAS may have similar to boys’ phenotype that need early diagnostics and treatment to prevent progression to ESKD. The Author 2018. Published by Oxford University Press on behalf of ERA-EDTA. [academic.oup.com]

These mutations prevent the formation of Type IV collagen fibres. [scielo.br]

How can this disease be prevented? The disease cannot be prevented. Pharmacotherapy is targeted at delaying progression of renal disease. The patient should be referred to ophthalmologic and audiologic specialists annually. [cancertherapyadvisor.com]