Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

Savige, Judy; Storey, Helen; Watson, E.; Hertz, Jens Michael; Deltas, Constantinos; Renieri, Alessandra; Mari, Francesca; Hilbert, Pascale; Plevová, Pavlína; Byers, Peter H.; Čerkauskaitė, Agnė; Gregory, Martin C.; Čerkauskienė, Rimantė; Ljubanović, Danica Galešić; Becherucci, Francesca; Errichiello, Carmela; Massella, Laura; Aiello, Valeria; Lennon, Rachel; Hopkinson, Louise; Koziell, Ania; Lungu, Adrian; Rothe, Hansjörg; Hoefele, Julia; Zacchia, Miriam; Martić, Tamara Nikuševa; Gupta, Asheeta; Eerde, Albertien van; Gear, Susie; Landini, Samuela; Palazzo, Viviana; Al‐Rabadi, Laith; Claes, Kathleen; Corveleyn, Anniek; Hoof, Evelien Van; Geel, Micheel van; Williams, Maggie; Ashton, Emma; Belge, Hendica; Ars, Elisabet; Bierżyńska, Agnieszka; Gangemi, Concetta; Lipska‐Ziętkiewicz, Beata S.

doi:10.1038/s41431-023-01288-x

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“…2 Approximately 85% of AS cases are caused by mutations in the COL4A5 gene on the X chromosome, 3 while other genetic causes involve the COL4A3/COL4A4 mutation on chromosome 2, which cause a defect in the α3 and α4 chains of type IV collagen and are transmitted as an autosomal recessive or rarely an autosomal dominant disease. 3,4 Unlike X-linked cases, which mostly lead to end-stage renal disease (ESRD) in men, autosomal cases can cause a variety of symptoms, ranging from hematuria to ESRD in men or women. 5,6 TBMN, also known as benign familial hematuria, affects about 1% of the general population.…”

Section: Introductionmentioning

confidence: 99%

“…2 It is caused by a genetic defect in type IV collagen, with a prevalence of about one in 5000 for the gene mutation and one in 10 000 for the disease. 2 Approximately 85% of AS cases are caused by mutations in the COL4A5 gene on the X chromosome, 3 while other genetic causes involve the COL4A3/COL4A4 mutation on chromosome 2, which cause a defect in the α3 and α4 chains of type IV collagen and are transmitted as an autosomal recessive or rarely an autosomal dominant disease. 3 , 4 Unlike X-linked cases, which mostly lead to end-stage renal disease (ESRD) in men, autosomal cases can cause a variety of symptoms, ranging from hematuria to ESRD in men or women.…”

Section: Introductionmentioning

confidence: 99%

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Clinicopathological Features of Hereditary Nephritis in the Iranian Population: Analysis of a 14-Year Survey in Kidney Biopsies From a Large Referral Center

Emami,

Nili,

Sotoudeh Anvari

et al. 2024

Arch Iran Med

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Background: Hereditary nephritis (HN), including Alport syndrome (AS) and thin basement membrane nephropathy (TBMN), is a rare genetic cause of hematuria. A definitive diagnosis requires electron microscopy (EM). Therefore, the clinical characteristics of these conditions are less known. This study aimed to determine the percentage and clinicopathological features of HN in patients from a referral center in Iran. Methods: We checked kidney biopsy reports from 2007 to 2021 and extracted cases with HN. Fresh specimens of the cases diagnosed in the last two years were stained by immunofluorescence (IF) for collagen type IV alpha chains. EM findings in these cases were re-evaluated and categorized as diffuse glomerular basement membrane (GBM) thinning, definite, and suspicious features of AS. Results: We analyzed 3884 pathology reports of kidney biopsies from 2007 to 2021 and identified 210 patients (5.4%) with HN, with a mean age of 13.78±12.42 years old. Hematuria with proteinuria (53.3%), isolated hematuria (44.2%), and proteinuria with hematuria and increased creatinine (2.5%) were found in these patients. The re-evaluation of EM findings revealed GBM thinning, definite, and suspicious findings of AS in 37.5%, 43.8%, and 18.8% cases, respectively. The most common diagnosis in 32 cases after the IF study was X-linked AS (71.9%), and 6.2% of cases were autosomal recessive AS. TBMN and autosomal dominant AS remained the differential diagnoses in 21.9%. Conclusion: It was found that EM is helpful for the primary diagnosis of patients with definite AS. Immunostaining improves the diagnostic sensitivity for the differentiation of those with suspicious EM findings and determines the inheritance pattern. However, a multidisciplinary approach for a subset of cases is required for the best diagnosis and management.

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