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Autosomal Dominant Alport Syndrome
Autosomal Dominant Alport's Syndrome

Presentation

This mutation is also present in a patient with anterior lenticonus, an observation only found in families with recessive and sex-linked Alport disease. [ncbi.nlm.nih.gov]

These families have been selected because 2 individuals were affected by a hematuric nephropathy, deafness being present in at least one of them. [link.springer.com]

Ears

  • Normal Hearing

    In Family B, the eyes of two individuals with renal failure, normal hearing, and haematological abnormalities were examined. [ncbi.nlm.nih.gov]

Psychiatrical

  • Suggestibility

    We report a family that suffers an autosomal dominant Alport syndrome caused by a previously undescribed mutation in the COL4A3 gene, in which several members have hearing impairment as the only clinical manifestation, suggesting that in this family deafness [ncbi.nlm.nih.gov]

    To explain such an anomaly, these authors suggest the possibility of an abnormal segregation of the dominant gene during the meiosis. 10 families have been studied. [link.springer.com]

Treatment

Sayer, ¿SGLT2 inhibitors - a potential treatment for Alport syndrome.,¿ Clin Sci (Lond), vol. 134, no. 4, pp. 379¿388, Feb. 2020, doi: 10.1042/CS20191276. 33. [nefrologiaaldia.org]

Prognosis

Bilateral sensorineural hearing loss is a characteristic feature of Alport syndrome, which is always linked to renal manifestations so they have a parallel evolution and prognosis, and deafness helps to identify the renal disease. [ncbi.nlm.nih.gov]

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