Research & Literature

MACULAR HOLES, VITELLIFORM LESIONS, AND MIDPERIPHERAL RETINOSCHISIS IN ALPORT SYNDROME.

Thomas AS, Baynham JT, Flaxel CJ

Retinal cases & brief reports 2016; (10(2)):109-11 doi:10.1097/ICB.0000000000000176.

Macroscopic hematuria with normal renal biopsy-following the chain to the diagnosis: Answers.

Truong J, Deschênes G, Callard P, et al.

Pediatric nephrology (Berlin, Germany) 2017; (32(2)):279-281 doi:10.1007/s00467-015-3268-2.

[Kidney allotransplantation from alive related donor in patients with Alport syndrome].

Goriaĭnov VA, Kaabak MM, Babenko NN, et al.

Khirurgiia 2016; 50-54 doi:10.17116/hirurgia2016150-54.

RAAS inhibition and the course of Alport syndrome.

Savva I, Pierides A, Deltas C

Pharmacological research 2016; (107()):205-210 doi:10.1016/j.phrs.2016.03.017.

Albumin contributes to kidney disease progression in Alport syndrome.

Jarad G, Knutsen RH, Mecham RP, Miner JH

American journal of physiology. Renal physiology 2016; (311(1)):F120-30 doi:10.1152/ajprenal.00456.2015.

Alport Syndrome in Women and Girls.

Savige J, Colville D, Rheault M, et al.

Clinical journal of the American Society of Nephrology : CJASN 2016; (11(9)):1713-1720 doi:10.2215/CJN.00580116.

AJKD Atlas of Renal Pathology: Thin Basement Membrane Lesion.

Fogo AB, Lusco MA, Najafian B, Alpers CE

American journal of kidney diseases : the official journal of the National Kidney Foundation 2016; (68(4)):e17-e18 doi:10.1053/j.ajkd.2016.08.005.

Lysyl Oxidase-like-2 Cross-links Collagen IV of Glomerular Basement Membrane.

Añazco C, López-Jiménez AJ, Rafi M, et al.

The Journal of biological chemistry 2016; (291(50)):25999-26012 doi:10.1074/jbc.M116.738856.

Accumulation of worn-out GBM material substantially contributes to mesangial matrix expansion in diabetic nephropathy.

Kriz W, Löwen J, Federico G, et al.

American journal of physiology. Renal physiology 2017; (312(6)):F1101-F1111 doi:10.1152/ajprenal.00020.2017.

Familial hematuria: A review.

Plevová P, Gut J, Janda J

Medicina (Kaunas, Lithuania) 2017; (53(1)):1-10 doi:10.1016/j.medici.2017.01.002.

Anti-Glomerular Basement Membrane Disease.

McAdoo SP, Pusey CD

Clinical journal of the American Society of Nephrology : CJASN 2017; (12(7)):1162-1172 doi:10.2215/CJN.01380217.

Renal, auricular, and ocular outcomes of Alport syndrome and their current management.

Zhang Y, Ding J

Pediatric nephrology (Berlin, Germany) 2018; (33(8)):1309-1316 doi:10.1007/s00467-017-3784-3.

Femtosecond laser-assisted cataract surgery in anterior lenticonus due to Alport syndrome.

Barnes AC, Roth AS

American journal of ophthalmology case reports 2017; (6()):64-66 doi:10.1016/j.ajoc.2017.03.004.

Three Novel Heterozygous COL4A4 Mutations Result in Three Different Collagen Type IV Kidney Disease Phenotypes.

Li A, Gao EZ, Cui YX, et al.

Cytogenetic and genome research 2018; (154(1)):30-36 doi:10.1159/000486979.

Bilateral giant macular holes: A rare manifestation of Alport syndrome.

Raimundo M, Fonseca C, Silva R, Figueira J

European journal of ophthalmology 2019; (29(1)):NP13-NP16 doi:10.1177/1120672118781232.

Use of preimplantation genetic testing for monogenic defects (PGT-M) for adult-onset conditions: an Ethics Committee opinion.

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Fertility and sterility 2018; (109(6)):989-992 doi:10.1016/j.fertnstert.2018.04.003.

A family case of X-linked Alport syndrome patients with a novel variant in COL4A5.

Kashiwagi Y, Suzuki S, Agata K, et al.

CEN case reports 2019; (8(2)):75-78 doi:10.1007/s13730-018-0368-4.

Renal transplantation in patients with Alport syndrome: patient selection, outcomes, and donor evaluation.

Kashtan CE

International journal of nephrology and renovascular disease 2018; (11()):267-270 doi:10.2147/IJNRD.S150539.

Should We Diagnose Autosomal Dominant Alport Syndrome When There Is a Pathogenic Heterozygous COL4A3 or COL4A4 Variant?

Savige J

Kidney international reports 2018; (3(6)):1239-1241 doi:10.1016/j.ekir.2018.08.002.

Features of Autosomal Recessive Alport Syndrome: A Systematic Review.

Lee JM, Nozu K, Choi DE, et al.

Journal of clinical medicine 2019; (8(2)) doi:10.3390/jcm8020178.

Dysregulated Expression of microRNA-21 and Disease-Related Genes in Human Patients and in a Mouse Model of Alport Syndrome.

Guo J, Song W, Boulanger J, et al.

Human gene therapy 2019; (30(7)):865-881 doi:10.1089/hum.2018.205.

A chloride ring is an ancient evolutionary innovation mediating the assembly of the collagen IV scaffold of basement membranes.

Pedchenko V, Bauer R, Pokidysheva EN, et al.

The Journal of biological chemistry 2019; (294(20)):7968-7981 doi:10.1074/jbc.RA119.007426.

[Alport syndrome. Report of two cases].

Jones A, Gallegos M, Díaz I, et al.

Revista medica de Chile 2019; (147(4)):522-526 doi:10.4067/S0034-98872019000400522.

Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome.

Yamamura T, Nozu K, Minamikawa S, et al.

Molecular genetics & genomic medicine 2019; (7(9)):e883 doi:10.1002/mgg3.883.

Alport syndrome with bilateral simultaneous anterior and posterior lenticonus with severe temporal macular thinning.

Gupta V, Jamil M, Luthra S, Puthalath AS

BMJ case reports 2019; (12(8)) doi:10.1136/bcr-2019-229554.

Phacoemulsification in bilateral anterior lenticonus in Alport syndrome: A case report.

Sedaghat MR, Momeni-Moghaddam H, Haghighi B, Moshirfar M

Medicine 2019; (98(39)):e17054 doi:10.1097/MD.0000000000017054.

Hearing Evaluation in Patients with Chronic Renal Failure: A 1 Year Cross-Sectional Study in a Tertiary Care Centre.

Mudhol RS, Jahnavi

Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India 2019; (71(Suppl 2)):1633-1638 doi:10.1007/s12070-019-01701-2.

The significance of relationships and dynamics in families with a child with end-stage kidney disease: A qualitative study.

Agerskov H, Thiesson HC, Pedersen BD

Journal of clinical nursing 2020; (29(5-6)):987-995 doi:10.1111/jocn.15170.

Monotherapy of RAAS blockers and mobilization of aldosterone: A mechanistic perspective study in kidney disease.

Gupta G, Dahiya R, Singh Y, et al.

Chemico-biological interactions 2020; (317()):108975 doi:10.1016/j.cbi.2020.108975.

SGLT2 inhibitors - a potential treatment for Alport syndrome.

Mabillard H, Sayer JA

Clinical science (London, England : 1979) 2020; (134(4)):379-388 doi:10.1042/CS20191276.

A child with familial glomerulonephritis: Answers.

Pennesi M, Squillaci D, Diomedi-Camassei F, et al.

Pediatric nephrology (Berlin, Germany) 2020; (35(10)):1873-1875 doi:10.1007/s00467-020-04551-1.

Anxiety and depression in diabetes care: longitudinal associations with health-related quality of life.

Liu X, Haagsma J, Sijbrands E, et al.

Scientific reports 2020; (10(1)):8307 doi:10.1038/s41598-020-57647-x.

Long-term ACE inhibition in Alport syndrome: are the benefits worth the risks?

Rheault MN, Smoyer WE

Kidney international 2020; (97(6)):1104-1106 doi:10.1016/j.kint.2020.01.030.

An overview of the multi-pronged approach in the diagnosis of Alport syndrome for 22 children in Northeast China.

Zhang L, Sun BC, Zhao BG, Ma QS

BMC nephrology 2020; (21(1)):294 doi:10.1186/s12882-020-01962-y.

Alport Syndrome: Achieving Early Diagnosis and Treatment.

Kashtan CE

American journal of kidney diseases : the official journal of the National Kidney Foundation 2021; (77(2)):272-279 doi:10.1053/j.ajkd.2020.03.026.

Genotype-phenotype correlations influence the response to angiotensin-targeting drugs in Japanese patients with male X-linked Alport syndrome.

Yamamura T, Horinouchi T, Nagano C, et al.

Kidney international 2020; (98(6)):1605-1614 doi:10.1016/j.kint.2020.06.038.

Glomerular Basement Membrane Protein Expression and the Diagnosis and Prognosis of Autosomal Dominant Alport Syndrome.

Akihisa T, Sato M, Wakayama Y, et al.

Kidney medicine 2019; (1(6)):391-396 doi:10.1016/j.xkme.2019.06.007.

SGLT2 inhibitors for non-diabetic kidney disease: drugs to treat CKD that also improve glycaemia.

Fernandez-Fernandez B, Sarafidis P, Kanbay M, et al.

Clinical kidney journal 2020; (13(5)):728-733 doi:10.1093/ckj/sfaa198.

Bidirectional, non-necrotizing glomerular crescents are the critical pathology in X-linked Alport syndrome mouse model harboring nonsense mutation of human COL4A5.

Song JY, Saga N, Kawanishi K, et al.

Scientific reports 2020; (10(1)):18891 doi:10.1038/s41598-020-76068-4.

Clinical practice recommendations for the diagnosis and management of Alport syndrome in children, adolescents, and young adults-an update for 2020.

Kashtan CE, Gross O

Pediatric nephrology (Berlin, Germany) 2021; (36(3)):711-719 doi:10.1007/s00467-020-04819-6.

Angiotensin-converting enzyme inhibitors in patients with Alport syndrome: can all patients benefit?

Rheault MN

Kidney international 2020; (98(6)):1400-1402 doi:10.1016/j.kint.2020.07.011.

Deciphering the pathogenesis of the COL4-related hematuric nephritis: A genotype/phenotype study.

Uliana V, Sebastio P, Riva M, et al.

Molecular genetics & genomic medicine 2021; (9(2)):e1576 doi:10.1002/mgg3.1576.

Lack of collagen α6(IV) chain in mice does not cause severe-to-profound hearing loss or cochlear malformation, a distinct phenotype from nonsyndromic hearing loss with COL4A6 missense mutation.

Tang S, Yonezawa T, Maeda Y, et al.

PloS one 2021; (16(4)):e0249909 doi:10.1371/journal.pone.0249909.

Multidisciplinary Management of Alport Syndrome: Current Perspectives.

Kashtan C

Journal of multidisciplinary healthcare 2021; (14()):1169-1180 doi:10.2147/JMDH.S284784.

Slowly Progressive Male Alport Syndrome Evaluated by Serial Biopsy: Importance of Type IV Collagen Staining.

Sato M, Manabe S, Itabashi M, et al.

Internal medicine (Tokyo, Japan) 2022; (61(8)):1205-1209 doi:10.2169/internalmedicine.7372-21.

Family Genetic Screening to Identify Cases of Alport Syndrome: A Case Study Report.

Sprague SM, Warady BA

Kidney medicine 2021; (3(5)):866-867 doi:10.1016/j.xkme.2021.05.005.

Next-Generation Sequencing-Based Genetic Diagnostic Strategies of Inherited Kidney Diseases.

Zhang J, Zhang C, Gao E, Zhou Q

Kidney diseases (Basel, Switzerland) 2021; (7(6)):425-437 doi:10.1159/000519095.

Preimplantation Genetic Testing Prevented Intergenerational Transmission of X-Linked Alport Syndrome.

Hu X, Zhang J, Lv Y, et al.

Kidney diseases (Basel, Switzerland) 2021; (7(6)):514-520 doi:10.1159/000517796.

Guidelines for Genetic Testing and Management of Alport Syndrome.

Savige J, Lipska-Zietkiewicz BS, Watson E, et al.

Clinical journal of the American Society of Nephrology : CJASN 2022; (17(1)):143-154 doi:10.2215/CJN.04230321.

Lifelong effect of therapy in young patients with the COL4A5 Alport missense variant p.(Gly624Asp): a prospective cohort study.

Boeckhaus J, Hoefele J, Riedhammer KM, et al.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2022; (37(12)):2496-2504 doi:10.1093/ndt/gfac006.

Quality of life measures in Systemic Lupus Erythematosus: A systematic review.

Radin M, El Hasbani G, Barinotti A, et al.

Reumatismo 2022; (73(4)) doi:10.4081/reumatismo.2021.1447.

Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndrome.

Gibson JT, Huang M, Shenelli Croos Dabrera M, et al.

Scientific reports 2022; (12(1)):2722 doi:10.1038/s41598-022-06525-9.

Genotype-Phenotype Correlations for Pathogenic COL4A3-COL4A5 Variants in X-Linked, Autosomal Recessive, and Autosomal Dominant Alport Syndrome.

Savige J, Huang M, Croos Dabrera MS, et al.

Frontiers in medicine 2022; (9()):865034 doi:10.3389/fmed.2022.865034.

Relation Among Anxiety, Depression, Sleep Quality and Health-Related Quality of Life Among Patients with Systemic Lupus Erythematosus: Path Analysis.

Chen HJ, Wang H, Qiu LJ, et al.

Patient preference and adherence 2022; (16()):1351-1358 doi:10.2147/PPA.S366083.

Digenic Alport Syndrome.

Savige J, Renieri A, Ars E, et al.

Clinical journal of the American Society of Nephrology : CJASN 2022; (17(11)):1697-1706 doi:10.2215/CJN.03120322.

Prenatal genetic testing 2: diagnostic tests.

Jenkins M, Seasely AR, Subramaniam A

Current opinion in pediatrics 2022; (34(6)):553-558 doi:10.1097/MOP.0000000000001174.

Genetic diagnosis and renal biopsy findings in the setting of a renal genetics clinic.

Ben Moshe Y, Bekheirnia N, Smith RJH, et al.

American journal of medical genetics. Part C, Seminars in medical genetics 2022; (190(3)):302-308 doi:10.1002/ajmg.c.32009.

Anti-glomerular basement membrane vasculitis.

Ponticelli C, Calatroni M, Moroni G

Autoimmunity reviews 2023; (22(1)):103212 doi:10.1016/j.autrev.2022.103212.

Mutation Analysis of Thin Basement Membrane Nephropathy.

Hirabayashi Y, Katayama K, Mori M, et al.

Genes 2022; (13(10)) doi:10.3390/genes13101779.

A Systematic Review of Pathogenic COL4A5 Variants and Proteinuria in Women and Girls With X-linked Alport Syndrome.

Gibson JT, de Gooyer M, Huang M, Savige J

Kidney international reports 2022; (7(11)):2454-2461 doi:10.1016/j.ekir.2022.08.021.

Current and Future Therapeutical Options in Alport Syndrome.

Reiterová J, Tesař V

International journal of molecular sciences 2023; (24(6)) doi:10.3390/ijms24065522.

Clinical, histological and molecular characteristics of Alport syndrome in Chinese children.

Zhou L, Xi B, Xu Y, et al.

Journal of nephrology 2023; (36(5)):1415-1423 doi:10.1007/s40620-023-01570-7.

[Expert consensus on the diagnosis and treatment of Alport syndrome (version 2023)].

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Zhonghua yi xue za zhi 2023; (103(20)):1507-1525 doi:10.3760/cma.j.cn112137-20230203-00161.

A novel variant in the COL4A3 gene: etiology of Alport syndrome type 2 in a 38-year-old male with suspected hereditary kidney disease.

Sienes Bailo P, Bancalero Flores JL, Lahoz Alonso R, et al.

Advances in laboratory medicine 2021; (2(3)):451-462 doi:10.1515/almed-2021-0058.

Collagen IV of basement membranes: III. Chloride pressure is a primordial innovation that drives and maintains the assembly of scaffolds.

Boudko SP, , Pedchenko VK, et al.

The Journal of biological chemistry 2023; (299(11)):105318 doi:10.1016/j.jbc.2023.105318.

Public Awareness and Acceptability of PGT-M in Cancer Predisposition Syndromes.

Calosci D, Passaglia L, Gabbiato I, et al.

Genes 2023; (14(11)) doi:10.3390/genes14112069.

Alport Syndrome: A Comprehensive Review.

Adone A, Anjankar A

Cureus 2023; (15(10)):e47129 doi:10.7759/cureus.47129.

Ocular Manifestations of Alport Syndrome: Report and Comparison of Two Cases.

Sargazi M, Dehghani S, Dahmardeh M, Mohammadi SO

Cureus 2023; (15(10)):e47373 doi:10.7759/cureus.47373.

Impact of primary kidney disease on the effects of empagliflozin in patients with chronic kidney disease: secondary analyses of the EMPA-KIDNEY trial.

The lancet. Diabetes & endocrinology 2024; (12(1)):51-60 doi:10.1016/S2213-8587(23)00322-4.

Is there a dominant-negative effect in individuals with heterozygous disease-causing variants in COL4A3/COL4A4?

Riedhammer KM, Simmendinger H, Tasic V, et al.

Clinical genetics 2024; (105(4)):406-414 doi:10.1111/cge.14471.

A Deeper Insight into COL4A3, COL4A4, and COL4A5 Variants and Genotype-Phenotype Correlation of a Turkish Cohort with Alport Syndrome.

Yavas C, Ozgenturk NO, Dogan M, et al.

Molecular syndromology 2024; (15(1)):1-13 doi:10.1159/000533915.

Depression, anxiety, and health-related quality of life in normal weight, overweight and obese individuals with diabetes: a representative study in Germany.

Herhaus B, Kruse J, Hinz A, et al.

Acta diabetologica 2024; (61(6)):725-734 doi:10.1007/s00592-024-02248-7.

Trimerization profile of type IV collagen COL4A5 exon deletion in X-linked Alport syndrome.

Koyama Y, Suico MA, Owaki A, et al.

Clinical and experimental nephrology 2024; (28(9)):874-881 doi:10.1007/s10157-024-02503-9.

Explaining Alport syndrome-lessons from the adult nephrology clinic.

Mabillard H, Ryan R, Tzoumas N, et al.

Journal of rare diseases (Berlin, Germany) 2024; (3(1)):14 doi:10.1007/s44162-024-00036-z.

Clinical, Pathological, and Genetic Characteristics of Patients with Digenic Alport Syndrome.

Inoki Y, Horinouchi T, Yamamura T, et al.

Kidney360 2024; (5(10)):1510-1517 doi:10.34067/KID.0000000000000547.

Alport Syndrome: Clinical Utility of Early Genetic Diagnosis in Children.

Christodoulaki V, Kosma K, Marinakis NM, et al.

Genes 2024; (15(8)) doi:10.3390/genes15081016.

Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant.

Daga S, Loberti L, Rollo G, et al.

European journal of human genetics : EJHG 2025; (33(4)):461-467 doi:10.1038/s41431-024-01706-8.

Prenatal and preimplantation genetic testing for monogenic kidney disorders.

Knoers NVAM

Kidney international 2025; (107(2)):255-261 doi:10.1016/j.kint.2024.06.031.

Preimplantation genetic testing for monogenic disorders (PGT-M) for monogenic nephropathy: a single-center retrospective cohort analysis.

Liu X, Zhang Q, Cao K, et al.

Clinical kidney journal 2025; (18(1)):sfae356 doi:10.1093/ckj/sfae356.

Alport syndrome: an update.

Savige J

Current opinion in nephrology and hypertension 2025; (34(3)):206-211 doi:10.1097/MNH.0000000000001063.

Phenotype-genotype correlations in patients with Alport syndrome from the Polish population.

Malarska M, Moczulska H, Pachniak P, et al.

Journal of nephrology 2025; (38(7)):1831-1839 doi:10.1007/s40620-025-02251-3.

The life cycle of type IV collagen.

Srinivasan S, Sherwood DR

Matrix biology : journal of the International Society for Matrix Biology 2025; (139()):14-28 doi:10.1016/j.matbio.2025.04.004.

Carrier screening for Alport syndrome: The clinical importance of heterozygosity for pathogenic or likely pathogenetic variants.

Souter V, Johnson L, Becraft E, et al.

Journal of genetic counseling 2025; (34(3)):e70045 doi:10.1002/jgc4.70045.

The heterozygous mutation COL4A4 c.817-1G>A causes Alport syndrome in a Chinese family: a case report.

Wang D, Li X, Cheng K, et al.

Frontiers in pediatrics 2025; (13()):1533638 doi:10.3389/fped.2025.1533638.

Stair-Case/Honeycomb Maculopathy in Alport Syndrome: A Case Report.

Rustam Z, Aman S, Singh N, et al.

Case reports in ophthalmology 2025; (16(1)):496-502 doi:10.1159/000546567.

Impact of COVID-19 on Health-Related Quality of Life and Mental Health Among Employees in Health and Social Services-A Longitudinal Study.

Peters C, Dulon M, Schablon A, et al.

Infectious disease reports 2025; (17(6)) doi:10.3390/idr17060138.