Alport Syndrome: Clinical Utility of Early Genetic Diagnosis in Children.
| Title: | Alport Syndrome: Clinical Utility of Early Genetic Diagnosis in Children. |
|---|---|
| Authors: | Christodoulaki V; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens (NKUA), 11527 Athens, Greece.; First Department of Pediatrics, National and Kapodistrian University of Athens Medical School, 'Aghia Sophia' Children's Hospital, 11527 Athens, Greece.; Kosma K; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens (NKUA), 11527 Athens, Greece.; Marinakis NM; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens (NKUA), 11527 Athens, Greece.; University Research Institute for the Study and Treatment of Genetic and Malignant Disorders in Childhood, Aghia Sophia Children's Hospital, National and Kapodistrian University of Athens, 11527 Athens, Greece.; Tilemis FN; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens (NKUA), 11527 Athens, Greece.; Stergiou N; First Department of Pediatrics, National and Kapodistrian University of Athens Medical School, 'Aghia Sophia' Children's Hospital, 11527 Athens, Greece.; Kampouraki A; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens (NKUA), 11527 Athens, Greece.; Kapogiannis C; First Department of Pediatrics, National and Kapodistrian University of Athens Medical School, 'Aghia Sophia' Children's Hospital, 11527 Athens, Greece.; Karava V; First Department of Pediatrics, National and Kapodistrian University of Athens Medical School, 'Aghia Sophia' Children's Hospital, 11527 Athens, Greece.; Mitsioni A; Department of Nephrology, 'P. and A. Kyriakou' Children's Hospital, 11527 Athens, Greece.; Mila M; Department of Nephrology, 'P. and A. Kyriakou' Children's Hospital, 11527 Athens, Greece.; Kanaka-Gantenbein C; First Department of Pediatrics, National and Kapodistrian University of Athens Medical School, 'Aghia Sophia' Children's Hospital, 11527 Athens, Greece.; Division of Endocrinology, Diabetes and Metabolism, First Department of Pediatrics, Medical School, Aghia Sophia Children's Hospital, National and Kapodistrian University of Athens, 11527 Athens, Greece.; Makrythanasis P; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens (NKUA), 11527 Athens, Greece.; Tzetis M; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens (NKUA), 11527 Athens, Greece.; Traeger-Synodinos J; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens (NKUA), 11527 Athens, Greece. |
| Source: | Genes [Genes (Basel)] 2024 Aug 02; Vol. 15 (8). Date of Electronic Publication: 2024 Aug 02. |
| Publication Type: | Journal Article |
| Language: | English |
| Journal Info: | Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE |
| Imprint Name(s): | Original Publication: Basel : MDPI |
| MeSH Terms: | Nephritis, Hereditary*/genetics ; Nephritis, Hereditary*/diagnosis; Genetic Testing/methods ; Collagen Type IV/genetics ; Kidney Failure, Chronic/genetics ; Kidney Failure, Chronic/diagnosis ; Humans ; Female ; Male ; Child ; Child, Preschool ; Adolescent ; Exome Sequencing ; Early Diagnosis ; Infant ; Mutation ; Adult ; Phenotype |
| Abstract: | Alport syndrome (AS) is a hereditary glomerulopathy due to pathogenic variants in COL4A3, COL4A4, and COL4A5. Treatment with Renin-Angiotensin-Aldosterone System (RAAS) inhibitors can delay progression to end stage renal disease (ESRD). From 2018 until today, we performed Whole Exome Sequencing (WES) in 19 patients with AS phenotype with or without positive family history. Fourteen of these patients were children. Genetic testing was extended to family members at risk. All patients received a genetic diagnosis of AS: five X-linked AS (XLAS) males, five X-linked AS (XLAS) females, six autosomal dominant AS (ADAS), and one autosomal recessive AS (ARAS). After cascade screening four XLAS males and eight XLAS females, six ADAS and three ARAS heterozygotes were added to our initial results. Fifteen patients were eligible to start treatment with RAAS inhibitors after their diagnosis. All XLAS female patients, ARAS heterozygotes, and ADAS have been advised to be followed up, so that therapeutic intervention can begin in the presence of microalbuminuria. Genetic diagnosis of AS ensures early therapeutic intervention and appropriate follow up to delay progression to chronic kidney disease, especially in thet pediatric population. |
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| Contributed Indexing: | Keywords: Alport syndrome; COL4A3; COL4A4; COL4A5; RAAS inhibitors; cascade screening; children |
| Substance Nomenclature: | 0 (Collagen Type IV); 0 (COL4A5 protein, human); 0 (COL4A4 protein, human) |
| Entry Date(s): | Date Created: 20240829 Date Completed: 20240829 Latest Revision: 20240903 |
| Update Code: | 20260130 |
| PubMed Central ID: | PMC11353900 |
| DOI: | 10.3390/genes15081016 |
| PMID: | 39202375 |
| Database: | MEDLINE |
Journal Article