A nationwide survey of MYH9-related disease in Japan
© 2023. The Author(s), under exclusive licence to Japanese Society of Nephrology..
BACKGROUND: MYH9-related disease (MYH9-RD) is characterized by congenital macrothrombocytopenia, Döhle body-like granulocyte inclusions, and nephropathy, which may progress to end-stage kidney disease (ESKD). However, information on the effects of renin-angiotensin system (RAS) inhibitors on kidney survival is currently lacking and the outcomes of kidney replacement therapy (KRT) in MYH9-RD are largely unknown.
METHODS: We conducted a cross-sectional nationwide survey by sending questionnaires to 145 institutions in Japan and analyzed data for 49 patients.
RESULTS: The median patient age was 27 years. Genetic analysis was performed in 37 (76%) patients. Twenty-four patients (65%) had MYH9 variants affecting the motor domain of non-muscle myosin heavy chain-IIA, and these patients had poorer kidney survival than those with variants affecting the tail domain (P = 0.02). There was no significant difference in kidney survival between patients treated with and without RAS inhibitors. Hemodialysis and peritoneal dialysis were performed in 16 and 7 patients, respectively. There were no major bleeding complications during the perioperative period or during follow-up, except for one patient. Most of the 11 patients who underwent kidney transplantation required perioperative red cell concentrate transfusions, but there was no graft loss during the median posttransplant observational period of 2.0 (interquartile range, 1.3-6.8) years.
CONCLUSION: Our study demonstrated no beneficial effect of RAS inhibitors on kidney function in patients with MYH9-RD, indicating the need for further studies with more patients. All modalities of KRT are feasible options for MYH9-RD patients who progress to ESKD, with adequate attention to bleeding complications.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2024 |
|---|---|
| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:28 |
|---|---|
| Enthalten in: |
Clinical and experimental nephrology - 28(2024), 1 vom: 01. Jan., Seite 40-49 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Shirai, Yoko [VerfasserIn] |
|---|
| Links: |
|---|
| Anmerkungen: |
Date Completed 05.01.2024 Date Revised 05.01.2024 published: Print-Electronic Citation Status MEDLINE |
|---|
| doi: |
10.1007/s10157-023-02404-3 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM362298319 |
|---|
| LEADER | 01000caa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM362298319 | ||
| 003 | DE-627 | ||
| 005 | 20240108142054.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 231226s2024 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1007/s10157-023-02404-3 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n1249.xml |
| 035 | |a (DE-627)NLM362298319 | ||
| 035 | |a (NLM)37733142 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Shirai, Yoko |e verfasserin |4 aut | |
| 245 | 1 | 2 | |a A nationwide survey of MYH9-related disease in Japan |
| 264 | 1 | |c 2024 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Completed 05.01.2024 | ||
| 500 | |a Date Revised 05.01.2024 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a © 2023. The Author(s), under exclusive licence to Japanese Society of Nephrology. | ||
| 520 | |a BACKGROUND: MYH9-related disease (MYH9-RD) is characterized by congenital macrothrombocytopenia, Döhle body-like granulocyte inclusions, and nephropathy, which may progress to end-stage kidney disease (ESKD). However, information on the effects of renin-angiotensin system (RAS) inhibitors on kidney survival is currently lacking and the outcomes of kidney replacement therapy (KRT) in MYH9-RD are largely unknown | ||
| 520 | |a METHODS: We conducted a cross-sectional nationwide survey by sending questionnaires to 145 institutions in Japan and analyzed data for 49 patients | ||
| 520 | |a RESULTS: The median patient age was 27 years. Genetic analysis was performed in 37 (76%) patients. Twenty-four patients (65%) had MYH9 variants affecting the motor domain of non-muscle myosin heavy chain-IIA, and these patients had poorer kidney survival than those with variants affecting the tail domain (P = 0.02). There was no significant difference in kidney survival between patients treated with and without RAS inhibitors. Hemodialysis and peritoneal dialysis were performed in 16 and 7 patients, respectively. There were no major bleeding complications during the perioperative period or during follow-up, except for one patient. Most of the 11 patients who underwent kidney transplantation required perioperative red cell concentrate transfusions, but there was no graft loss during the median posttransplant observational period of 2.0 (interquartile range, 1.3-6.8) years | ||
| 520 | |a CONCLUSION: Our study demonstrated no beneficial effect of RAS inhibitors on kidney function in patients with MYH9-RD, indicating the need for further studies with more patients. All modalities of KRT are feasible options for MYH9-RD patients who progress to ESKD, with adequate attention to bleeding complications | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Bleeding complications | |
| 650 | 4 | |a Epstein syndrome | |
| 650 | 4 | |a Kidney replacement therapy | |
| 650 | 4 | |a MYH9-related disease | |
| 650 | 4 | |a Renin-angiotensin system inhibitors | |
| 650 | 7 | |a Antihypertensive Agents |2 NLM | |
| 650 | 7 | |a MYH9 protein, human |2 NLM | |
| 650 | 7 | |a Myosin Heavy Chains |2 NLM | |
| 650 | 7 | |a EC 3.6.4.1 |2 NLM | |
| 700 | 1 | |a Miura, Kenichiro |e verfasserin |4 aut | |
| 700 | 1 | |a Hamada, Riku |e verfasserin |4 aut | |
| 700 | 1 | |a Ishikura, Kenji |e verfasserin |4 aut | |
| 700 | 1 | |a Kunishima, Shinji |e verfasserin |4 aut | |
| 700 | 1 | |a Hattori, Motoshi |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Clinical and experimental nephrology |d 1998 |g 28(2024), 1 vom: 01. Jan., Seite 40-49 |w (DE-627)NLM096492473 |x 1437-7799 |7 nnns |
| 773 | 1 | 8 | |g volume:28 |g year:2024 |g number:1 |g day:01 |g month:01 |g pages:40-49 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1007/s10157-023-02404-3 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 28 |j 2024 |e 1 |b 01 |c 01 |h 40-49 | ||