Renin-angiotensin System Blockade Therapy for Early Renal Involvement in MYH9-related Disease with an E1841K Mutation

Tanaka, Mari; Miki, Sho; Saita, Hirona; Shimada, Hiroki; Nishikawa, Seira; Taniguchi, Keisuke; Hagihara, Koichiro; Iwanari, Sachio; Ikeda, Masaki; Kunishima, Shinji; Takeoka, Hiroya

doi:10.2169/internalmedicine.2997-19

Cited by 12 publications

(5 citation statements)

References 16 publications

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“…The comparison between the two NMMHC‐IIA domains (head and coil/tail) confirmed that head variants are associated with a higher occurrence of nephropathy and sensorineural deafness than coil/tail variants, but no significant difference was found for cataracts 14 . Depending on the site of the MYH9 variants, it has been suggested that the initiation of renin–angiotensin system inhibitors may decrease proteinuria and delay the progression of renal damage 15–18 . This information suggests that early and correct diagnosis of MYH9 ‐RD is essential.…”

Section: Discussionmentioning

confidence: 91%

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Diagnostic delay of MYH9‐related disorder in Japan

Sakamoto,

Uchiyama,

Kaname

et al. 2024

Br J Haematol

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SummaryMYH9‐related disorder (MYH9‐RD) is characterized by congenital macrothrombocytopenia and granulocyte inclusion bodies. MYH9‐RD is often misdiagnosed as chronic immune thrombocytopenia. In this study, we investigated age at definitive diagnosis and indicative thrombocytopenia in 41 patients with MYH9‐RD from the congenital thrombocytopenia registry in Japan. Our cohort comprises 54.8% adults over 18 years at confirmed diagnosis. We found a significant difference (p < 0.0001) between the median age at definitive diagnosis of 25.0 years and for indicative thrombocytopenia it was 9.0 years. Our findings strongly suggest diagnostic delay of MYH9‐RD in Japan. Our registry system will continue to contribute to this issue.

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Section: Discussionmentioning

confidence: 91%

“…14 Depending on the site of the MYH9 variants, it has been suggested that the initiation of renin-angiotensin system inhibitors may decrease proteinuria and delay the progression of renal damage. [15][16][17][18] This information suggests that early and correct diagnosis of MYH9-RD is essential.…”

Section: Discussionmentioning

confidence: 99%

Diagnostic delay of MYH9‐related disorder in Japan

Sakamoto,

Uchiyama,

Kaname

et al. 2024

Br J Haematol

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“…Should signs of initial kidney damage appear, patients have to receive angiotensin converting enzyme inhibitors and/or angiotensin receptor blockers, because these drugs have been reported to have a beneficial effect. 86 , 87 …”

Section: Management Of the Manifestations That Add To Thrombocytopeniamentioning

confidence: 99%

Treatment of inherited thrombocytopenias

Balduini

2022

haematol

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The new techniques of genetic analysis have made it possible to identify many new forms of inherited thrombocytopenias (IT) and study large series of patients. In recent years, this has changed the view of IT, highlighting the fact that, in contrast to previous belief, most patients have a modest bleeding diathesis. On the other hand, it has become evident that some of the mutations responsible for platelet deficiency predispose the patient to serious, potentially lifethreatening diseases. Today's vision of IT is, therefore, very different from that of the past and the therapeutic approach must take these changes into account while also making use of the new therapies that have become available in the meantime. This review, the first devoted entirely to IT therapy, discusses how to prevent bleeding in those patients who are exposed to this risk, how to treat it if it occurs, and how to manage the serious illnesses to which patients with IT may be predisposed.

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“…53 In these cases, the early administration of angiotensin II receptor type 1 (AT1) antagonists may have beneficial effects. 54…”

Section: Diagnostic Approachesmentioning

confidence: 99%

Diagnosis of Platelet Function Disorders: A Challenge for Laboratories

Wagner

Uzun²,

Bakchoul

et al. 2022

Hamostaseologie

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In patients with normal plasmatic coagulation and bleeding tendency, platelet function defect can be assumed. Congenital platelet function defects are rare. Much more commonly they are acquired. The clinical bleeding tendency of platelet function defects is heterogeneous, which makes diagnostic approaches difficult. During the years, a large variety of tests for morphological phenotyping and functional analysis have been developed. The diagnosis of platelet function defects is based on standardized bleeding assessment tools followed by a profound morphological evaluation of the platelets. Platelet function assays like light transmission aggregation, luminoaggregometry, and impedance aggregometry followed by flow cytometry are commonly used to establish the diagnosis in these patients. Nevertheless, despite great efforts, standardization of these tests is poor and in most cases, quality control is lacking. In addition, these tests are still limited to specialized laboratories. This review summarizes the approaches to morphologic phenotyping and platelet testing in patients with suspected platelet dysfunction, beginning with a standardized bleeding score and ending with flow cytometry testing. The diagnosis of a functional defect requires a good collaboration between the laboratory and the clinician.

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Renin-angiotensin System Blockade Therapy for Early Renal Involvement in MYH9-related Disease with an E1841K Mutation

Cited by 12 publications

References 16 publications

Diagnostic delay of MYH9‐related disorder in Japan

Diagnostic delay of MYH9‐related disorder in Japan

Treatment of inherited thrombocytopenias

Diagnosis of Platelet Function Disorders: A Challenge for Laboratories

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