Year : 2020 | Volume
: 31 | Issue : 4 | Page : 865--867
Sana Barrah1, Rania Kheder1, Hela Jebali1, Madiha Krid1, Wided Smaoui1, Soumaya Beji1, Fathi Ben Hmida2, Lilia Ben Fatma1, Lamia Rais1, Mohamed Karim Zouaghi1,
1 Department of Nephrology, Dialysis and Transplantation, Rabta Hospital, Tunis, Tunisia
2 Department of Research Laboratory of Kidney Diseases (LR00SP01), Hôspital Charles Nicolle; Department of the Faculty of Medicine, University Tunis El Manar, Tunis, Tunisia
Department of Nephrology, Dialysis and Transplantation, Rabta Hospital, Tunis
Epstein syndrome is characterized by sensorineural hearing impairment, macro- thrombocytopenia without neutrophil inclusion bodies, and hereditary nephritis which can progress to end-stage renal disease (ESRD) in adolescence. The prognosis of Epstein’s syndrome depends on the severity of the hematological disorders and renal involvement that can lead to ESRD at an early age. Thrombocytopenia in Epstein syndrome is not an absolute contraindication for major surgical procedures like arteriovenous fistula formation or kidney transplantation. There are no set guidelines for preoperative prophylaxis in a patient with this pathology.
|How to cite this article:|
Barrah S, Kheder R, Jebali H, Krid M, Smaoui W, Beji S, Hmida FB, Fatma LB, Rais L, Zouaghi MK. Epstein Syndrome.Saudi J Kidney Dis Transpl 2020;31:865-867
|How to cite this URL:|
Barrah S, Kheder R, Jebali H, Krid M, Smaoui W, Beji S, Hmida FB, Fatma LB, Rais L, Zouaghi MK. Epstein Syndrome. Saudi J Kidney Dis Transpl [serial online] 2020 [cited 2020 Dec 5 ];31:865-867
Available from: https://www.sjkdt.org/text.asp?2020/31/4/865/292323
Nonmuscle myosin heavy chain 9 gene (MYH9)-related disorders are a group of autosomal dominant inherited disorders caused by mutations of the MYH9 gene, which encodes the nonmuscle myosin heavy chain IIA. May-Hegglin anomaly and Sebastian, Fechtner, and Epstein syndromes belong to this group. Epstein syndrome is characterized by sensorineural hearing impairment, macro- thrombocytopenia without neutrophil inclusion bodies, and hereditary nephritis, and can progress to end-stage renal disease (ESRD) in adolescence. The prevalence of MYH9-related disorders is probably underestimated due to underreporting and frequent misdiagnosis of the cases. In general, surgical procedures including kidney transplantation is difficult to perform in Epstein syndrome owing to the high risk of perioperative bleeding.
Informed consent was obtained from the patient’s parents for publication of this case.
A 16-year-old male presented with hypertension with the diagnosis of renal insufficiency. The patient was referred to nephrology. The creatinine clearance according to MDRD was 49.9 mL/mn. Patient’s grandfather died of renal failure at 45 years of age, cause of which was not known. Review of records revealed that he and his brother had macrothrombo- pathic thrombocytopenia, sensorineural hearing loss and urinary sediment abnormality with proteinuria and hematuria. In view of these findings, we made the diagnosis of Epstein syndrome. The patient was hospitalized in our department at the age of 18 years for ESRD in 2012; clearance was at 6.2 mL/min. The patient was pale and had pedal edema on admission. Blood pressure was 180/100 mm Hg. Rest of systemic examination was normal. Ophthalmic examination including fundus was normal; there was no evidence of lenticonus. Audiometry was suggestive of bilateral moderate-to-severe sensorineural hearing loss. Laboratory parameters revealed hemoglobin; 5 g/dL, total leukocyte count; 7000/μL, platelet count; 70 × 10(9)/L. Coombs direct and indirect test were negative. Bone marrow examination was unremarkable. Bleeding time and clotting time were normal. The patient presented several episodes of hemoptoic sputum second- dary to acute pulmonary edema. He benefited from the perdialytic transfusion. Double lumen catheter was inserted into the right internal jugular vein with platelet count of 80000/μL and patient was put on maintenance hemo- dialysis for eight weeks. Erythropoietin and intravenous iron supplement was given regularly. The patient’s blood pressure was maintained at 130/80 mm Hg with four anti- hypertensive drugs. Then, he was changed to treatment with peritoneal dialysis (PD) for two years. The patient chooses the PD. The patient had a kidney transplant at the age of 20 years. The kidney donor was his father. The degree of thrombocytopenia prompted transfusion of apheresis platelets before the surgery and he had good response (115 χ 10(9)/L). The kidney transplant was without incident.
Epstein syndrome affecting not only the kidney but is a syndromic disorder with inner ear and hematological abnormalities. This syndrome belongs to the nonmuscle MYH9 related hereditary macrothrombocytopenia which include the above-mentioned disorders. The platelets disorders are found to be associated with mutation in the MYH9. Giant platelets are present in all affected individuals, with platelet numbers varying from 30,000/μL to 100,000/μL., The bleeding tendency is usually moderate, with menorrhagia and easy bruising being the most frequent. Although major bleeding episodes are rare, a case of fatal spontaneous intracranial bleeding has been reported in an individual with MYH9- related disease. Women with MYH9-related disorders often experience menorrhagia. The biggest risk for the individual is inappropriate treatment due to misdiagnosis of chronic autoimmune thrombocytopenia. The protocol for the management of the bleeding diathesis in these patients, especially in the setting of invasive procedures, is yet undefined. It is rare that there are no hemorrhagic incidents during a major surgery like our case. No definitive guidelines exist for preoperative prophylactic platelet transfusion in these patients. As recommended for other bleeding disorders, medications that impair platelet function (e.g., aspirin) should be avoided in individuals with an MYH9 disorder., Regular dental care reduces the risk of gingival bleeding, and application of oily nose ointment can help reduce frequency of epistaxis. It is very important to prevent the development of iron-deficiency anemia, because a low hematocrit will exacerbate the impaired platelet-subendo-thelial interactions (impaired primary hemostasis). In MYH9-related disease, pharmacologic blockade of the renin-angiotensin system reduced proteinuria in four individuals. It seems reasonable to start this treatment at the early stage of renal insufficiency in individuals with MYH9 disorders., Several studies showed individuals with MYH9 disorders through a wide variety of surgical interventions, including dental extraction, tonsillectomy, and adenectomy, cataract lens replacement, cesarean section, orthopedic joint replacement, cardiopulmonary bypass surgery, and neurosurgical interventions. None of the individuals showed severe hemorrhage, although dental surgery was associated with greater bleeding than usual.,,, Sehbai et al reported a neurosurgical intervention in an individual with MYH9-related disorder with the administration of desmopressin (DDAVP) without bleeding complications. Although their platelet counts are decreased, individuals with MYH9 disorders are not protected from thrombosis after surgery. If DDAVP and antifibrinolytics are given, the risk for thrombosis might even be higher than that in the normal population, and thromboprophylaxis should be strongly considered in situ ations (e.g., postsurgery) with a high risk of thrombosis.
The prognosis of Epstein’s syndrome depends on the severity of the hematological disorders, and renal involvement that can lead to ESRD at an early age.
This patient’s platelet count was within guidelines to warrant transfusion; however, some patients with MYH9 mutations have counts above the transfusion threshold. To the authors’ knowledge, there are no set guidelines for preoperative prophylaxis in a patient with an MYH9 deficiency. The management of the bleeding diathesis in these patients, especially in the setting of invasive procedures, is uncertain. Thrombocytopenia in Epstein syndrome is not an absolute contraindication for major surgical procedures such as arterio- venous fistula formation or kidney transplantation. Patients presenting with renal failure with thrombocytopenia should be screened for Epstein syndrome.
Conflict of interest: None declared.
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