{"id":49714,"date":"2026-10-22T06:00:16","date_gmt":"2026-10-22T04:00:16","guid":{"rendered":"https:\/\/semmelweis.hu\/english\/?p=49714"},"modified":"2026-10-22T08:29:38","modified_gmt":"2026-10-22T06:29:38","slug":"leading-alport-syndrome-researchers-convene-at-semmelweis-university","status":"publish","type":"post","link":"https:\/\/semmelweis.hu\/english\/2026\/10\/leading-alport-syndrome-researchers-convene-at-semmelweis-university\/","title":{"rendered":"Leading Alport syndrome researchers convene at Semmelweis University"},"content":{"rendered":"
The world\u2019s best nephrologists, geneticists, and researchers, as well as affected patients exchanged ideas on topics ranging from basic research to the organization of patient care at the 2026 International Workshop on Alport Syndrome, held on September 5\u20137 at Semmelweis University\u2019s Nagyv\u00e1rad Square Theoretical Block (NET). More than 250 participants from 40 countries attended the conference, co-organized by the Alport Syndrome Alliance and the Pediatric Center at Semmelweis University. The latter conducts cutting-edge genetic research in the field of hereditary kidney diseases; furthermore, it is here that the greatest number of patients in Hungary have been identified with Alport syndrome through genetic testing.<\/div>\n

Semmelweis University hosted the 2026 International Workshop on Alport Syndrome on September 5\u20137. The event was co-organized by the Alport Syndrome Alliance, the world\u2019s largest patient organization dedicated to Alport syndrome, as well as the European Rare Kidney Disease Reference Network (ERKNet), and Semmelweis University\u2019s Pediatric Center, which cares for approximately 115 patients. The workshop attracted more than 250 participants from 40 countries around the world, not only researchers and practicing clinicians \u2013 primarily nephrologists, geneticists, audiologists, and ophthalmologists \u2013 but also affected patients.<\/p>\n

\n
What is Alport syndrome?<\/h6>\n

Alport syndrome is one of the most common hereditary kidney diseases, which causes harm to the kidneys, inner ear, and possibly the eyes due to abnormally formed collagen fibers and damage to the basement membrane. Different variants of the three causative genes lead to varying degrees of collagen fiber damage, so symptoms can vary widely. Early diagnosis of the disease is important, but this is challenging due to an initial, almost asymptomatic period that can last for years. The initial symptoms of severe Alport syndrome \u2013 microscopic hematuria (the presence of blood in the urine) and proteinuria (excess protein in the urine) \u2013 typically appear during the first decade of life and are initially detectable only through laboratory testing. In severe forms, the disease requires renal replacement therapy within the first four decades of life. These severe forms are usually accompanied by hearing impairment; less frequently, eye complications (macular degeneration or cataracts) may also occur.<\/p>\n<\/div>\n

\"\"<\/a>\u201cThe first day of the event was dedicated to patients: In addition to informational presentations, they had the opportunity to raise issues and questions that directly affect them. The second day focused on the latest developments in diagnostic and genetic research, the third day on advances in gene therapy and drug development, as well as ongoing clinical trials,\u201d Dr. K\u00e1lm\u00e1n Tory, a nephrogeneticist, head of the Dialysis Unit at the Pediatric Center, and host of the conference, told our website. Approximately 100 patients attended the event, including fifty from Hungary; in addition to listening to the presentations and exchanging experiences, they were able to gain insight into the day-to-day work of researchers. At Semmelweis University\u2019s Department of Biophysics and Radiation Biology, which also conducts research on collagenopathies, visiting patients were welcomed by Head of Department Dr. Mikl\u00f3s Kellermayer and Dr. Benedek Nagy; at the Nephrogenetics Research Laboratory \u2013 located at the B\u00f3kay Street Department of the Pediatric Center \u2013 they were received by T\u00e1lia Magdolna Keszthelyi and Regina L\u00e9gr\u00e1di.<\/p>\n

Participants in the conference included Dr. Roser Torra, President of the European Renal Association (ERA); Dr. Franz Schaefer, Coordinator of ERKNet; Dr. Billy Hudson, a collagen researcher at Vanderbilt University; as well as Dr. Katalin Suszt\u00e1k, a researcher at the University of Pennsylvania and a Semmelweis alumna. In their presentations, they summarized current developments in basic research, including opportunities related to targeted therapies. Dr. David Bick, Principal Clinician of the British Generation Study, reported on how whole genome sequencing can be integrated into population-level newborn screening, which also enables the early detection of hereditary kidney diseases. Dr. Lutz N\u00e4hrlich, one of the founders of the European Cystic Fibrosis Society Patient Registry (ECFSPR), demonstrated how, in the case of a rare disease, a systematic, international patient registry can become a shared driving force for both research and patient care. \u201cFor the Alport community this is an experience they can adapt directly,\u201d summarized Dr. K\u00e1lm\u00e1n Tory. The presentation of research on genetic therapies also featured prominently in the program. Among these, both RNA and DNA-based therapies appear promising, and manufacturers are attempting to influence the course of Alport syndrome through multiple targets, added Dr. K\u00e1lm\u00e1n Tory.<\/p>\n\r\n [slb_exclude]\r\n

\r\n
\r\n \r\n\t\t\t\t
\"\"<\/a><\/div>\r\n <\/span>\r\n\r\n <\/div>\r\n\r\n\t\t\t
\r\n\t\t\t\t
\r\n
\r\n\t\t\t\t\t

Gallery<\/h3>\r\n\t\t\t\t\t
\r\n\r\n\t\t\t\t\t\t
8<\/span>images<\/div>\r\n <\/div> <\/div>\r\n \r\n\t\t\t\t\t
\"\"<\/a><\/div>\r\n <\/span>\r\n \r\n\t\t\t\t\t
\"\"<\/a><\/div>\r\n <\/span>\r\n\r\n <\/div>\r\n\r\n <\/div>\r\n\r\n
\r\n \"\"\r\n <\/a><\/div><\/span>
\r\n \"\"\r\n <\/a><\/div><\/span>
\r\n \"\"\r\n <\/a><\/div><\/span>
\r\n \"\"\r\n <\/a><\/div><\/span>
\r\n \"\"\r\n <\/a><\/div><\/span>\r\n <\/div>\r\n\r\n [\/slb_exclude]\r\n\t\n

In Hungary, the prevalence of severe forms of Alport syndrome is approximately one in 20,000 to 50,000, meaning that there are at least 200 patients living with this form of the syndrome in the country. 56 families and 115 patients with various forms of Alport syndrome have been identified through genetic testing at Semmelweis University\u2019s Pediatric Center, but numerous other families have also been identified at other university centers across the country. Many affected individuals have a mild form of the disease, so the condition \u2013 and the predisposing gene variants \u2013 are often not identified, or are only identified later in life, possibly during genetic testing conducted for other medical conditions.<\/p>\n

The Pediatric Center provides genetic testing for children and adults in the Central Hungary region who are referred with suspected hereditary kidney diseases. They also frequently receive patients from hospitals elsewhere in the country, as the center houses a hemodialysis center \u2013 the only one in the country that treats exclusively children \u2013 as well as a laboratory specializing in nephrogenetic testing. Here, researchers primarily investigate the likelihood that specific variants of the approximately 300 known genes causing various kidney diseases actually trigger the disease. \u201cThis is generally less common than one might expect based on clinical experience,\u201d noted Dr. K\u00e1lm\u00e1n Tory.<\/p>\n

Newborn and fetal exome sequencing may become widespread in the coming decades, Dr. K\u00e1lm\u00e1n Tory pointed out. \u201cA major breakthrough in the treatment of Alport syndrome was the realization that, with early diagnosis, taking certain blood pressure-lowering medications could delay the progression of the disease and the need for renal replacement therapy by one or even two decades. Therefore, the early identification of patients with more severe forms of the disease can significantly influence its course,\u201d said Dr. K\u00e1lm\u00e1n Tory.<\/p>\n

Melinda Katalin Kiss
\nTranslation: Dr. Bal\u00e1zs Csizmadia
\nPhotos by Bogl\u00e1rka Zellei and the Pediatric Center \u2013 Semmelweis University<\/p>\n

 <\/p>\n

\"\"<\/a>\u201cProject No. MEC_SZ156924 was implemented with funding from the National Research, Development and Innovation Fund of the Ministry of Science and Technology.\u201d<\/p>\n","protected":false},"excerpt":{"rendered":"

More than 250 participants from 40 countries attended the conference.<\/p>\n","protected":false},"author":102369,"featured_media":49717,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[13,286],"tags":[215,29],"class_list":["post-49714","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-science","category-x-nyitolap","tag-healing","tag-research"],"acf":[],"_links":{"self":[{"href":"https:\/\/semmelweis.hu\/english\/wp-json\/wp\/v2\/posts\/49714","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/semmelweis.hu\/english\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/semmelweis.hu\/english\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/semmelweis.hu\/english\/wp-json\/wp\/v2\/users\/102369"}],"replies":[{"embeddable":true,"href":"https:\/\/semmelweis.hu\/english\/wp-json\/wp\/v2\/comments?post=49714"}],"version-history":[{"count":7,"href":"https:\/\/semmelweis.hu\/english\/wp-json\/wp\/v2\/posts\/49714\/revisions"}],"predecessor-version":[{"id":49735,"href":"https:\/\/semmelweis.hu\/english\/wp-json\/wp\/v2\/posts\/49714\/revisions\/49735"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/semmelweis.hu\/english\/wp-json\/wp\/v2\/media\/49717"}],"wp:attachment":[{"href":"https:\/\/semmelweis.hu\/english\/wp-json\/wp\/v2\/media?parent=49714"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/semmelweis.hu\/english\/wp-json\/wp\/v2\/categories?post=49714"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/semmelweis.hu\/english\/wp-json\/wp\/v2\/tags?post=49714"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}