Sporadic Epstein syndrome with macrothrombocytopenia, sensorineural hearing loss and renal failure

Makino, Seiya; Kunishima, Shinji; Ikumi, Aki; Awaguni, Hitoshi; Shinozuka, Jun; Tanaka, Shinichiro; Maruyama, Rikken; Imashuku, Shinsaku

doi:10.1111/ped.12736

Cited by 5 publications

(4 citation statements)

References 10 publications

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“…Some patients only have macrothrombocytopaenia and blue inclusion bodies in granulocytes, without obvious bleeding tendencies or signs of infection [3,10,13]. Some cases were associated with kidney disease, hearing impairments and cataracts [10,14,15]. Here, we reported a sporadic MYH9-RD case without a bleeding history.…”

Section: Letter To the Editormentioning

confidence: 81%

A sporadic MYH9-related disease in a Chinese boy with p.A95T mutation

et al. 2019

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Section: Letter To the Editormentioning

confidence: 81%

A sporadic MYH9-related disease in a Chinese boy with p.A95T mutation

et al. 2019

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“…The renal replacement therapies selected by patients with MYH9-RD are summarized in Table 2, which also focuses on the association between bleeding episodes and management of thrombocytopenia due to genetic mutations. In the case of MYH9-RD, HD, peritoneal dialysis (PD) and renal transplantation have been reported [4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21]. Since the patient hoped to conceive after renal transplantation in this case, we explained the rare complication of PD catheter obstruction due to fallopian tube wrapping [20].…”

Section: Discussionmentioning

confidence: 97%

Successful renal transplantation following hemodialysis as bridging therapy in a patient with Fechtner syndrome: a case report and literature review

Hama,

Yamaguchi,

Uchiyama

et al. 2023

Ren Replace Ther

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Background Fechtner syndrome, also referred to as nonmuscle myosin heavy chain 9-related disease (MYH9-RD), is an autosomal-dominant genetic disorder. It is caused by abnormalities in the MYH9 gene, which encodes the nonmuscle conventional (class II) myosin heavy chain A (NMMHC-IIA). Its clinical manifestations include mild macrothrombocytopenia with leukocyte inclusions, hearing loss, cataracts, and renal failure. Case presentation We present the case of a 34-year-old female patient with Fechtner syndrome in whom end-stage renal disease (ESRD) developed. During childhood, she presented with the typical symptoms of MYH9-RD, including thrombocytopenia, leukocyte inclusion bodies, onset of nephropathy, sensorineural hearing loss, and cataracts, wherein a clinical diagnosis of Fechtner syndrome was established. Her renal function deteriorated during adolescence. Furthermore, the patient underwent renal biopsy at the age of 18 years, which revealed focal segmental glomerulosclerosis. She was started on hemodialysis at the age of 33 years, followed by a living-donor renal transplantation after 5 months. She achieved a target platelet count of 50 × 109/L for arteriovenous fistula creation and 100 × 109/L for renal transplantation via platelet transfusions. Heparin use was avoided as an anticoagulant during hemodialysis. Since the patient expressed a desire for childbearing, genetic testing was performed, revealing an in-frame deletion of 21 nucleotides at 3195–3215 in exon 25 (A1065_A1072 del) of NMMHC-IIA, which has been reported to correlate with mild renal dysfunction. Our patient’s condition progressed into ESRD. Although genetic testing techniques have made great strides in recent years, our case clearly presents the difficulty in assuming an association between genetic abnormalities and clinical manifestations. Conclusions Our case may provide further understanding of the management of ESRD in patients with MYH9-RD-related thrombocytopenia based on the results of genetic testing.

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“…The main symptom of MYH9 -associated disorders is macro-platelet-thrombocytopenia [6, 7], but these platelets display normal aggregation [8]. Herein, we report family with MYH9 gene mutation without classic phenotypic manifestation.…”

Section: Discussionmentioning

confidence: 99%

“…The c.2105G>A p.(Arg702His) variant is listed in the ClinVar database as a pathogenic variant. In publications, this variant was described in individuals with different manifestations, but it is correlated with severe thrombocytopenia, proteinuria, glomerulosclerosis, and hearing loss [6, 7, 9]. In the largest study to date, Pecci et al evaluated genotype-phenotype correlations in patients with MYH9 -associated disease.…”

Section: Discussionmentioning

confidence: 99%

Unusual Cause of Thrombocytopenia and Renal Failure in a 14-Year-Old Boy (MYH9-Associated Disorders)

Granak,

Brndiarova,

Vnucak

et al. 2023

Case Rep Nephrol Dial

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MYH9-associated disorders represent rare group of autosomal dominant diseases and are caused by pathogenic mutations in the <i>MYH9</i> gene. Clinically, they are represented by macro-platelet-thrombocytopenia, various degrees of renal dysfunction, hearing loss, and early onset cataracts. We describe the case of 14-year-old boy in medical follow-up from birth for thrombocytopenia. Systolic hypertension and nephrotic proteinuria were detected at preventive health check. Renal biopsy revealed sing of segmental glomerulosclerosis. Dialysis treatment was needed. Before transplantation due to the finding of chronic tonsillitis with positive bacterial capture in the culture examination, tonsillectomy was indicated. Postoperative period was complicated with arterial post-tonsillectomy hemorrhage. Six months after tonsillectomy, the patient underwent primary deceased-donor kidney transplantation without complication. Blood platelets showed fluctuating character in the zone of severe thrombocytopenia. However, no signs of bleeding were present. Three months after successful transplantation gene sequencing of whole exon was performed. The presence of the variant c.2105G>A [p.(Arg702HIS)] in exon 17 of the <i>MYH9</i> gene has been detected. The variant c.2105G>A may be clinically manifested by progressive proteinuria with rapid deterioration of renal function. This case is an example of the delayed diagnosis of rare disease and highlights the usefulness of genetic testing.

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Sporadic Epstein syndrome with macrothrombocytopenia, sensorineural hearing loss and renal failure

Cited by 5 publications

References 10 publications

A sporadic MYH9-related disease in a Chinese boy with p.A95T mutation

A sporadic MYH9-related disease in a Chinese boy with p.A95T mutation

Successful renal transplantation following hemodialysis as bridging therapy in a patient with Fechtner syndrome: a case report and literature review

Unusual Cause of Thrombocytopenia and Renal Failure in a 14-Year-Old Boy (MYH9-Associated Disorders)

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