Investigation of the current situation regarding diagnosis and treatment of Alport syndrome in Asian countries: results of survey of the Asian Paediatric Nephrology association (AsPNA) tubular and inherited working group

1. Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G,

Renieri A, Weber M, Gross O, Netzer KO, Flinter F, Pirson Y,

Dahan K, Wieslander J, Persson U, Tryggvason K, Martin P, Hertz

JM, Schroder C, Sanak M, Carvalho MF, Saus J, Antignac C,

Smeets H, Gubler MC. X-linked Alport syndrome: natural history

and genotype-phenotype correlations in girls and women belonging to 195 families: a “European Community Alport syndrome

concerted action” study. J Am Soc Nephrol. 2003;14:2603–10.

2. Jais JP, Knebelmann B, Giatras I, Marchi M, Rizzoni G, Renieri

A, Weber M, Gross O, Netzer KO, Flinter F, Pirson Y, Verellen

C, Wieslander J, Persson U, Tryggvason K, Martin P, Hertz JM,

Schroder C, Sanak M, Krejcova S, Carvalho MF, Saus J, Antignac C, Smeets H, Gubler MC. X-linked Alport syndrome: natural

history in 195 families and genotype- phenotype correlations in

males. J Am Soc Nephrol. 2000;11:649–57.

3. Mallett A, Tang W, Clayton PA, Stevenson S, McDonald SP,

Hawley CM, Badve SV, Boudville N, Brown FG, Campbell

SB, Johnson DW. End-stage kidney disease due to Alport syndrome: outcomes in 296 consecutive Australia and New Zealand

dialysis and transplant registry cases. Nephrol Dial Transplant.

2014;29:2277–86.

4. Yamamura T, Nozu K, Fu XJ, Nozu Y, Ye MJ, Shono A, Yamanouchi S, Minamikawa S, Morisada N, Nakanishi K, Shima Y,

Yoshikawa N, Ninchoji T, Morioka I, Kaito H, Iijima K. Natural

history and genotype-phenotype correlation in female X-linked

Alport syndrome. Kidney Int Rep. 2017;2:850–5.

5. Zhang Y, Bockhaus J, Wang F, Wang S, Rubel D, Gross O, Ding

J. Genotype-phenotype correlations and nephroprotective effects

13

780

6. 7. 8. 9. Clinical and Experimental Nephrology (2023) 27:776–780

of RAAS inhibition in patients with autosomal recessive Alport

syndrome. Pediatr Nephrol. 2021;36:2719–30.

Nozu K, Nakanishi K, Abe Y, Udagawa T, Okada S, Okamoto T,

Kaito H, Kanemoto K, Kobayashi A, Tanaka E, Tanaka K, Hama

T, Fujimaru R, Miwa S, Yamamura T, Yamamura N, Horinouchi

T, Minamikawa S, Nagata M, Iijima K. A review of clinical characteristics and genetic backgrounds in Alport syndrome. Clin Exp

Nephrol. 2019;23:158–68.

Gross O, Licht C, Anders HJ, Hoppe B, Beck B, Tonshoff B,

Hocker B, Wygoda S, Ehrich JH, Pape L, Konrad M, Rascher W,

Dotsch J, Muller-Wiefel DE, Hoyer P, Study Group Members of

the Gesellschaft fur Padiatrische N, Knebelmann B, Pirson Y,

Grunfeld JP, Niaudet P, Cochat P, Heidet L, Lebbah S, Torra R,

Friede T, Lange K, Muller GA, Weber M. Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure

and improves life expectancy. Kidney Int. 2012;81:494–501.

Gross O, Tonshoff B, Weber LT, Pape L, Latta K, Fehrenbach

H, Lange-Sperandio B, Zappel H, Hoyer P, Staude H, Konig S,

John U, Gellermann J, Hoppe B, Galiano M, Hoecker B, Ehren

R, Lerch C, Kashtan CE, Harden M, Boeckhaus J, Friede T, German Pediatric Nephrology Study G, Investigators EP-TA. A multicenter, randomized, placebo-controlled, double-blind phase 3

trial with open-arm comparison indicates safety and efficacy of

nephroprotective therapy with ramipril in children with Alport’s

syndrome. Kidney Int. 2020;97:1275–86.

Yamamura T, Horinouchi T, Nagano C, Omori T, Sakakibara

N, Aoto Y, Ishiko S, Nakanishi K, Shima Y, Nagase H, Takeda

13

H, Rossanti R, Ye MJ, Nozu Y, Ishimori S, Ninchoji T, Kaito

H, Morisada N, Iijima K, Nozu K. Genotype-phenotype correlations influence the response to angiotensin-targeting drugs in

Japanese patients with male X-linked Alport syndrome. Kidney

Int. 2020;98:1605–14.

10. Real Resontoc L, Kandai N, Hooman N, Vasudevan A, Ding J,

Kang H. Pediatric tubular and inherited disorders in asia: results

of preliminary survey of the asian pediatric nephrology association (aspna) tubular and inherited working group. Asian J Pediatric Nephrol. 2022;5:14–20.

1 1. Sugimoto K, Fujita S, Miyazawa T, Nishi H, Enya T, Izu A, Wada

N, Sakata N, Okada M, Takemura T. Cyclosporin A may cause

injury to undifferentiated glomeruli persisting in patients with

Alport syndrome. Clin Exp Nephrol. 2014;18:492–8.

12. Massella L, Muda AO, Legato A, Di Zazzo G, Giannakakis K, Emma F. Cyclosporine A treatment in patients with

Alport syndrome: a single-center experience. Pediatr Nephrol.

2010;25:1269–75.

Publisher's Note Springer Nature remains neutral with regard to

jurisdictional claims in published maps and institutional affiliations.

...