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Hearing Loss Associated with Renal Disease (Alport syndrome, Branchio-Oto-Renal syndrome)

A number of hearing loss syndromes are associated with abnormal kidney function/morphology stemming from molecular similarities between the cochlea and the kidneys.
A diagnosis of autosomal dominant or x-linked Alport syndrome should be entertained in patients (especially boys) who have sensorineural hearing loss and hereditary nephritis,suggested by proteinuria and microscopic hematuria. Consultation with a pediatric nephrologist and geneticist is recommended for individuals with hearing loss and persistent hematuria/proteinuria. Vision may also be affected.
Children with sensorineural, conductive or mixed hearing loss and branchial arch anomalies (neck masses, branchial cleft cysts or fistulae), should undergo renal ultrasonography to evaluate for anomalies associated with Branchio-Oto-Renal syndrome. Renal anomalies vary in this condition and patients are often asymptomatic .

Genetic testing is available and should be coordinated through a geneticist or genetic counselor.

Resources

Information & Support

For Professionals

Branchiootorenal Syndrome (GeneReviews)
Information concerning the characteristics, testing and management of Branchiootorenal Syndrome.

Genetics in Primary Care Institute (AAP)
The goal of this site is to increase collaboration in the care of children with known or suspected genetic disorders. Includes health supervision guidelines and other useful resources; a collaboration among the Health Resources & Services Administration, the Maternal and Child Health Bureau, and the American Academy of Pediatrics.

Genetics in Primary Care Institute (AAP)
The goal of this site is to increase collaboration in the care of children with known or suspected genetic disorders. Includes health supervision guidelines and other useful resources; a collaboration among the Health Resources & Services Administration, the Maternal and Child Health Bureau, and the American Academy of Pediatrics.

For Parents and Patients

Branchiootorenal Syndrome (GHR)
Excellent, detailed review of condition for patients and families; U.S. National Library of Medicine.

Alport syndrome (GHR)
Excellent, detailed review of condition for patients and families; U.S. National Library of Medicine.

Alport Syndrome Foundation
A non-profit, volunteer-led organization founded in 2007; site provides information, a community forum, and other resources.

Helpful Articles

McKusick VA, Tiller GE, Hamosh A, Phillips JA, et al.
Alport Syndrome, X-linked.
Online Mendelian Inheritance in Man, OMIM; McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD); (2004) http://omim.org/entry/301050. Accessed on 02/11/05.
Detailed information focusing on genetics, includes clinical description and research findings.

McKusick VA, Tiller GE, Hamosh A, Phillips JA, et al.
Alport Syndrome, Autosomal Dominant.
Online Mendelian Inheritance in Man, OMIM; McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD); (2004) http://omim.org/entry/104200. Accessed on 02/11/05.
Detailed information focusing on genetics and including a clinical synopsis and research findings.

McKusick VA, Tiller GE, Hamosh A, Phillips JA, et al.
Alport Syndrome, Autosomal Recessive.
Online Mendelian Inheritance in Man, OMIM; McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD); (2000) http://omim.org/entry/203780. Accessed on 2005.
Detailed information focusing on genetics, includes clinical description and research findings.

Kashtan CE.
Alport Syndrome and Thin Basement Membrane Nephropathy.
GeneReviews; (2003) http://www.ncbi.nlm.nih.gov/books/NBK1207/. Accessed on 08/1/13.
Provides detaled information concerning diagnosis, management, and genetic counseling for X-linked, autosomal recessive, and autosomal dominant Alport syndrome.

McKusick VA, Tiller GE, Hamosh A, Phillips JA, et al.
Branchiootorenal Dysplasia.
Online Mendelian Inheritance in Man, OMIM; McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD); (2004) http://omim.org/entry/113650. Accessed on 02/12/05.
Provides detailed information, including a clinical synopsis and research findings.

Tomaski SM, Grundfast KM.
A stepwise approach to the diagnosis and treatment of hereditary hearing loss.
Pediatr Clin North Am. 1999;46(1):35-48. PubMed abstract

Authors

Authors: Karl White, Ph D - 8/2014
Richard Harward, AuD - 8/2010
Content Last Updated: 8/2010