Research & Literature

Glomerular filtration rate and albuminuria for detection and staging of acute and chronic kidney disease in adults: a systematic review.

Levey AS, Becker C, Inker LA

JAMA 2015; (313(8)):837-46 doi:10.1001/jama.2015.0602.

Glomerular filtration rate decline as a surrogate end point in kidney disease progression trials.

Badve SV, Palmer SC, Hawley CM, et al.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2016; (31(9)):1425-36 doi:10.1093/ndt/gfv269.

Clinical and histological findings of autosomal dominant renal-limited disease with LMX1B mutation.

Konomoto T, Imamura H, Orita M, et al.

Nephrology (Carlton, Vic.) 2016; (21(9)):765-73 doi:10.1111/nep.12666.

Spectrum of LMX1B mutations: from nail-patella syndrome to isolated nephropathy.

Harita Y, Kitanaka S, Isojima T, et al.

Pediatric nephrology (Berlin, Germany) 2017; (32(10)):1845-1850 doi:10.1007/s00467-016-3462-x.

Dysregulation of WTI (-KTS) is Associated with the Kidney-Specific Effects of the LMX1B R246Q Mutation.

Hall G, Lane B, Chryst-Ladd M, et al.

Scientific reports 2017; (7()):39933 doi:10.1038/srep39933.

Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation.

Nakata T, Ishida R, Mihara Y, et al.

BMC nephrology 2017; (18(1)):100 doi:10.1186/s12882-017-0516-7.

Nail-patella syndrome.

Witzgall R

Pflugers Archiv : European journal of physiology 2017; (469(7-8)):927-936 doi:10.1007/s00424-017-2013-z.

LMX1B-Associated Nephropathy With Type III Collagen Deposition in the Glomerular and Tubular Basement Membranes.

Andeen NK, Schleit J, Blosser CD, et al.

American journal of kidney diseases : the official journal of the National Kidney Foundation 2018; (72(2)):296-301 doi:10.1053/j.ajkd.2017.09.023.

Genomic medicine for kidney disease.

Groopman EE, Rasouly HM, Gharavi AG

Nature reviews. Nephrology 2018; (14(2)):83-104 doi:10.1038/nrneph.2017.167.

Change in albuminuria and subsequent risk of end-stage kidney disease: an individual participant-level consortium meta-analysis of observational studies.

Coresh J, Heerspink HJL, Sang Y, et al.

The lancet. Diabetes & endocrinology 2019; (7(2)):115-127 doi:10.1016/S2213-8587(18)30313-9.

Conditions, pathogenesis, and progression of diabetic kidney disease and early decliner in Japan.

Yoshida Y, Kashiwabara K, Hirakawa Y, et al.

BMJ open diabetes research & care 2020; (8(1)) doi:10.1136/bmjdrc-2019-000902.

Myelin bodies in LMX1B-associated nephropathy: potential for misdiagnosis.

Lei L, Oh G, Sutherland S, et al.

Pediatric nephrology (Berlin, Germany) 2020; (35(9)):1647-1657 doi:10.1007/s00467-020-04564-w.

Clinical and genetic characterization of nephropathy in patients with nail-patella syndrome.

Harita Y, Urae S, Akashio R, et al.

European journal of human genetics : EJHG 2020; (28(10)):1414-1421 doi:10.1038/s41431-020-0655-3.

Focal Segmental Glomerulosclerosis and Scheduled Pretransplant Plasmapheresis: A Timely Diagnosis of Nail-Patella Syndrome Avoided More Futile Immunosuppression.

Trimarchi H

Case reports in nephrology 2020; (2020()):8879555 doi:10.1155/2020/8879555.

Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report.

Pinto E Vairo F, Pichurin PN, Fervenza FC, et al.

BMC nephrology 2020; (21(1)):341 doi:10.1186/s12882-020-02012-3.

The dapagliflozin and prevention of adverse outcomes in chronic kidney disease (DAPA-CKD) trial: baseline characteristics.

Wheeler DC, Stefansson BV, Batiushin M, et al.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2020; (35(10)):1700-1711 doi:10.1093/ndt/gfaa234.

Nail-Patella syndrome with early onset end-stage renal disease in a child with a novel heterozygous missense mutation in the LMX1B homeodomain: A case report.

Carinelli S, Blanco OA, Perdomo-Ramirez A, Claverie-Martin F

Biomedical reports 2020; (13(5)):49 doi:10.3892/br.2020.1356.

Collagenofibrotic Glomerulopathy.

Miyake M, Katayama K, Ehara T, et al.

Internal medicine (Tokyo, Japan) 2021; (60(6)):911-915 doi:10.2169/internalmedicine.6090-20.

Whole-Exome Sequencing Solved over 2-Decade Kidney Disease Enigma.

Isaranuwatchai S, Chanakul A, Ittiwut C, et al.

Nephron 2021; (145(3)):311-316 doi:10.1159/000514293.

Sodium/glucose cotransporter 2 inhibitors in chronic kidney disease and heart failure: ready for prime time in patients without diabetes.

Vlasschaert C, Sidhu B, Silver SA

Current opinion in nephrology and hypertension 2021; (30(3)):361-368 doi:10.1097/MNH.0000000000000703.

A Novel Mutation in LMX1B (p.Pro219Ala) Causes Focal Segmental Glomerulosclerosis with Alport Syndrome-like Phenotype.

Oe Y, Mishima E, Mori T, et al.

Internal medicine (Tokyo, Japan) 2021; (60(18)):2991-2996 doi:10.2169/internalmedicine.6987-20.

A critical re-analysis of cases of post-transplantation recurrence in genetic nephrotic syndrome.

Mason AE, Saleem MA, Bierzynska A

Pediatric nephrology (Berlin, Germany) 2021; (36(11)):3757-3769 doi:10.1007/s00467-021-05134-4.

LMX1B-associated nephropathy that showed myelin figures on electron microscopy.

Shimohata H, Miyake Y, Yoshida Y, et al.

CEN case reports 2021; (10(4)):588-591 doi:10.1007/s13730-021-00612-y.

Retrospective Diagnosis of Nail-patella Syndrome.

Virani ZA, Rajput P, Vora H, Shah BV

Indian journal of nephrology 2021; (31(5)):485-487 doi:10.4103/ijn.IJN_172_20.

Case report: A novel R246L mutation in the LMX1B homeodomain causes isolated nephropathy in a large Chinese family.

Li X, Fan J, Fu R, et al.

Medicine 2024; (103(10)):e37442 doi:10.1097/MD.0000000000037442.

Nail-patella syndrome with nephropathy in a de novo LMX1B mutation: triangular lunula of the thumb and lack of finger creases as clues.

Banno Y, Ikemiyagi M, Hamada R, et al.

Pediatric nephrology (Berlin, Germany) 2024; (39(9)):2627-2631 doi:10.1007/s00467-024-06344-2.

Focal segmental glomerulosclerosis associated with undescribed mutation in the LMX1B gene.

Martín Gómez MA, Caba Molina M, León Fradejas M, et al.

European journal of medical genetics 2024; (72()):104980 doi:10.1016/j.ejmg.2024.104980.

Clinicopathological characteristics and cyclosporine-responsive proteinuria in nail-patella syndrome with a novel LMX1B mutation.

Jiang L, Feng S, Xu Z, et al.

Pediatric nephrology (Berlin, Germany) 2026; (41(4)):1013-1024 doi:10.1007/s00467-025-07036-1.

A case of concurrent Alport syndrome and Nail-patella syndrome posing diagnostic challenge without genetic testing.

Fung WW, Yau ML, Lam PPH, et al.

BMC nephrology 2025; (26(1)):668 doi:10.1186/s12882-025-04606-1.

Orthopedic manifestations and management of nail-patella syndrome: a narrative review.

Beaugé A, Sbampato V, Vazquez O, et al.

Frontiers in pediatrics 2026; (14()):1744875 doi:10.3389/fped.2026.1744875.

Case report: dual pathology of LMX1B-associated nephropathy and iga nephropathy in a middle-aged woman.

Sajjad A, Amer R, Alsayed M, et al.

BMC nephrology 2026; (27(1)).