Edit concept Question Editor Create issue ticket

X-Linked Deafness 4

DFN6


Presentation

  • The conductive hearing loss component, which may or may not be present, is due to fixation of the stapes.[personalizedmedicine.partners.org]
  • Otitis media without infection presents a special problem because symptoms of pain and fever are usually not present. Therefore, weeks and even months can go by before parents suspect a problem.[asha.org]
  • The CT and clinical findings are considered typical, and a family history need not be present to suggest the diagnosis of X-linked congenital hearing loss. In four patients reported by Talbot and Wilson ( 4 ), a family history was not present.[ajnr.org]
  • Results The male index subject presented with an overlap of CMTX5 and Arts syndrome features, whereas his sister presented with prelingual DFN2. Both showed mild parietal and cerebellar atrophy on MRI.[ojrd.biomedcentral.com]
  • Present On Admission POA Help "Present On Admission" is defined as present at the time the order for inpatient admission occurs — conditions that develop during an outpatient encounter, including emergency department, observation, or outpatient surgery[icd10data.com]
Camping
  • Authors The Hereditary Hearing loss Homepage is maintained by Guy Van Camp, University of Antwerp guy.vancamp@uantwerp.be Richard Smith, University of Iowa richard-smith@uiowa.edu If you want something to be included, or if you have other comments or[hereditaryhearingloss.org]
  • When genetic testing results for known genes are negative, a recommended strategy is to rule out Usher syndrome so that treatment can begin, if the condition is diagnosed (Hilgert, Smith, & Van Camp, 2009).[audiologyonline.com]
  • Lemaire FX, Feenstra L, Huygen PL, Fransen E, Devriendt K, Van Camp G, Vantrappen G, Cremers CW, Wackym PA and Koss JC (2003).[dizziness-and-balance.com]
Italian
  • ., Tay-Sachs in Jewish or French Canadian populations, sickle cell disease in African Americans, cystic fibrosis among whites, Thalassemia among Italians, Greeks, and Asians.[www2.loras.edu]

Treatment

  • Without treatment, 90% of males develop kidney failure by 40 years old. Females develop kidney failure less frequently and more slowly.[kidney.org]
  • There is no cure for Alport syndrome but treatment can relieve symptoms 1, 2.[centogene.com]
  • Alport Syndrome treatment at eMedicine Name, Your. "EdRen - Edinburgh Royal Infirmary Renal Unit - Alport anti-GBM disease". www.edren.org. Retrieved 2016-02-17. Tryggvason K, Heikkilä P, Pettersson E, Tibell A, Thorner P (1997).[en.wikipedia.org]
  • Treatment: Remove fructose from diet. Galactosemia Carbohydrate Metabolism Defect Autosomal Recessive.[kumc.edu]

Prognosis

  • 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]
  • […] production of alpha 3 (Goodpasture's antigen) and alpha 4; some X linked patients also have diffuse leiomyomatosis ( Hum Pathol 1998;29:404 ) Autosomal recessive: mutations in collagen type IV alpha 3 or alpha 4 genes, males and females have similar prognosis[pathologyoutlines.com]
  • "Mid-frequency sensorineural hearing loss: aetiology and prognosis." J Laryngol Otol 119 (7): 529-33. Steel KP. A new era in the genetics of deafness. NEJM 1998 Stojkovic and others.[dizziness-and-balance.com]
  • For those with classic Alport syndrome, hearing aids are often required in teenage or young adult years. [ citation needed ] Prognosis [ edit ] Studies of the life expectancy of patients with Alport syndrome are rare, but one 2012 study of 456 male patients[en.wikipedia.org]

Etiology

  • Use Additional Use Additional Help Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology.[icd10data.com]
  • An important benefit of genetic testing is etiologic diagnosis of hearing loss (JCIH, 2007; ACMG, 2002).[audiologyonline.com]
  • Of note, there’s some debate about the molecular etiology of nonsyndromic sensorineural hearing loss in subjects with only one detectable GJB2 mutation. A minority of such cases is explained by digenic etiology of GJB2 with GJB3 or GJB6.[bredagenetics.com]
  • It has diverse etiologies and is not attributed to a single genetic locus. The incidence is roughly 1 in 45,000. (Scholtz et al, 2001). Jervell and Lange-Nielsen Syndrome This hearing syndrome is associated with cardiac arrhythmias.[dizziness-and-balance.com]

Epidemiology

  • Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular[books.google.com]
  • For prelingual hearing loss, epidemiological data show that 1 neonate in 1, 000 is born with severe to profound hearing loss and in half that number the loss is inherited.[ci.nii.ac.jp]
  • 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]
  • Genetic epidemiology of hearing impairment. Ann NYAS 630;16-31. Nakamura Y and others. Abnormal evoked potentials of Kearns-Sayre syndrome.[dizziness-and-balance.com]
Sex distribution
Age distribution

Pathophysiology

  • […] has been described very rarely in patients with early-onset disease. [6] Leiomyomas, tumours of smooth muscle affecting the oesophagus and female genital tract, may occur in a rare overlap syndrome involving the adjacent COL4A5 and COL4A6 genes. [10] Pathophysiology[en.wikipedia.org]

Prevention

  • Mutations in these genes result in abnormalities of the type IV collagen in glomeruli, which prevents the kidneys from properly filtering the blood and allows blood and protein to pass into the urine.[ghr.nlm.nih.gov]
  • See the video Genetic Screening: The Ultimate Preventive Medicine (KCTS/Seattle, 1980).[www2.loras.edu]
  • Mutations in any of these genes prevent the proper production or assembly of the specialised type IV collagen '345' network which is an important structural component of basement membranes in the kidney, inner ear, and eye.[en.wikipedia.org]
  • Abnormality of any of these chains, as observed in patients with Alport syndrome, limits formation of the collagen network and prevents incorporation of the other collagen chains.[emedicine.medscape.com]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!