A patient with Alport syndrome (AS) showed clinical improvement years after receiving a transplant of a kidney from his father, even though subsequent genetic analysis found that the patient has autosomal recessive AS (ARAS) while his father has the autosomal dominant (ADAS) form of the condition. The…

Genetic tests led to the diagnosis of X-linked Alport syndrome in a man with rheumatoid arthritis (RA), explaining the finding of small amounts of blood in his urine, according to a case report. The research, “An overlap of Alport syndrome and rheumatoid arthritis in a…

Hearing loss in male patients with X-linked Alport syndrome (XLAS) is caused by sensorineural deafness that becomes worse with age. Also, the more serious the mutations carried by patients, the higher the degree of their…

Detailed analysis of inner ear structures in a patient diagnosed with X-linked inherited Alport syndrome reveals particular cochlea features that may contribute to hearing loss among these patients, researchers suggest. The findings of the case report were described in a study published in the journal Laryngoscope Investigative Otolaryngology, titled…

WASHINGTON — Alport syndrome, a rare genetic disorder that leads to life-threatening kidney damage, also causes hearing loss — yet that part of the disease is poorly understood and receives relatively little attention. Gina Parziale, executive director of the Alport Syndrome Foundation, hopes to change that. “We want to…

A case study of Alport syndrome will be the subject of an oral presentation and discussion at the 96th annual meeting of the American Academy of Optometry (AAO), Oct. 11-14 in Chicago. Titled “A Mutation in the Basement: Case Discussion of Alport Syndrome,” the case study will be…

The protein endothelin-1 was found to be linked to both kidney and ear problems in Alport syndrome, according to a mouse study. Targeting endothelin-1 may be a therapeutic approach for the disease, and could prevent hearing loss. The study, “Endothelin-1 mediated induction of extracellular matrix genes in strial marginal cells underlies…

Alport syndrome is a rare genetic condition leading to kidney disease, as well hearing loss and eye problems. The disorder, also going under the name Hereditary Nephritis, Hereditary Deafness and Nephropathy, among others, is more common in boys. According to the National Organization for Rare Disorders (NORD), about…