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The First Case of MYH9 Related Disorder in Serbia Kongenitalna Trombocitopenija Sa Nefritisom – Prvi Bolesnik Sa MYH9 Poremeüajem U Srbiji

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The First Case of MYH9 Related Disorder in Serbia Kongenitalna Trombocitopenija Sa Nefritisom – Prvi Bolesnik Sa MYH9 Poremeüajem U Srbiji Vojnosanit Pregl 2014; 71(4): 395–398. VOJNOSANITETSKI PREGLED Strana 395 UDC: 575:61]:[616.155.2-056.7:616.61 CASE REPORTS DOI: 10.2298/VSP121127001K Congenital thrombocytopenia with nephritis – The first case of MYH9 related disorder in Serbia Kongenitalna trombocitopenija sa nefritisom – prvi bolesnik sa MYH9 poremeüajem u Srbiji Miloš Kuzmanoviü*†, Shinji Kunishima‡, Jovana Putnik†, Nataša Stajiü*†, Aleksandra Paripoviü†, Radovan Bogdanoviü*† *Faculty of Medicine, University of Belgrade, Belgrade, Serbia; †Institute of Mother and Child Health Care of Serbia „Dr Vukan ýupiü“, Belgrade, Serbia; ‡Department of Advanced Diagnosis, Clinical Research Center, National Hospital Organization, Nagoya Medical Center, Nagoya, Japan Abstract Apstrakt Introduction. The group of autosomal dominant disor- Uvod. Grupu autozomno dominantnih poremeýaja – Ep- ders – Epstein syndrome, Sebastian syndrome, Fechthner steinov sindrom, Sebastianov sindrom, Fechthnerov sindrom syndrome and May-Hegglin anomaly – are characterised i May-Hegglinovu anomaliju – odlikuju trombocitopenija sa by thrombocytopenia with giant platelets, inclusion bod- džinovskim trombocitima, inkluzije u granulocitima, kao i ra- ies in granulocytes and variable levels of deafness, dis- zliÿita zastupljenost gluvoýe, poremeýaja vida i funkcije bub- turbances of vision and renal function impairment. A rega. Genetska osnova ovih sindroma su mutacije u genu za common genetic background of these disorders are mu- teški lanac nemišiýnog miozina IIA, a za ovu grupu sindroma tations in MYH9 gene, coding for the nonmuscle myosin predložen je naziv bolesti vezane za MYH9. Diferencijalna heavy chain IIA. Differential diagnosis is important for dijagnoza prema trombocitopenijama druge etiologije je zna- the adequate treatment strategy. The aim of this case re- ÿajna zbog pravilnog izbora terapijskih postupaka. Cilj rada port was to present a patient with MYH9 disorder in bio je prikaz bolesnika sa MYH9 poremeýajem u Srbiji. Pri- Serbia. Case report. A 16-year-old boy was referred to kaz bolesnika. Bolesnik, star 16 godina, sa dijagnozom rezi- our hospital with the diagnosis of resistant immune stentne imunske trombocitopenije upuýen je radi daljeg leÿe- thrombocytopenia for splenectomy. Thrombocytopenia nja splenektomijom. Trombocitopenija je otkrivena u petoj was incidentally discovered at the age of five. The treat- godini života rutinskim pregledom krvne slike. U više navrata ment with corticosteroids on several occasions was un- bolesnik je leÿen kortikosteroidima ali bez povoljnog terapij- successful. Although the platelet count was below 10 × skog odgovora. Iako je broj trombocita najÿešýe bio manji od 109/L, there were no bleeding symptoms. Besides 10 × 109/L, nisu se javljali simptomi krvarenja. Pored trom- thrombocytopenia with giant platelets, on admission the bocitopenije sa džinovskim trombocitima, na prijemu su na- patient also suffered sensorineuronal hearing loss and Āeni senzorineuralna gluvoýa kao i proteinurija. Dijagnoza je proteinuria. The diagnosis was confirmed with immuno- potvrĀena imunofluorescentnim nalazom i genetskom anali- fluorescence and genetic analyses. Conclusion. Early zom. Zakljuÿak. Pravovremeno prepoznavanje poremeýaja recognition of MYH9-related diseases is essential to mutacije MYH9 neophodno je kako bi se izbegli neadekvatni avoid unnecessary and potentially harmful treatments for i potencijalno opasni naÿini leÿenja koji se primenjuju kod misdiagnosed immune thrombocytopenia, and also for imunske trombocitopenije. TakoĀe, odgovarajuýom terapi- timely and proper therapy in attempt to delay end-stage jom odlaže se razvoj terminalne bubrežne insuficijencije i renal failure and improve quality of life. poboljšava kvalitet života. Key words: Kljuÿne reÿi: thrombocytopenia; nephritis hereditary; myosin heavy trombocitopenija; nefritis, nasledni; miozin, teški lanci; chains; diagnosis, serbia. dijagnoza; srbija. Correspondence to: Miloš Kuzmanoviý, Institute of Mother and Child Health Care of Serbia, Radoja Dakiýa 6-8, 11 070 Belgrade, Serbia. Phone/fax: + 381 11 3108 245. E-mail: [email protected] Strana 396 VOJNOSANITETSKI PREGLED Volumen 71, Broj 4 Introduction Findings of urine abnormalities prompted further in- vestigations and a more detailed family history. Both patient The group of autosomal dominant disorders formerly parents were healthy; father’s blood pressure, platelet count, called Epstein (OMIM # 153650), Fechtner (OMIM # GFR, urine sediment and 24-hour protein excretion all were 153640), and Sebastian syndrome (OMIM # 605249) and normal. Audiometry showed high tone sensorineural deaf- May-Hegglin anomaly (OMIM # 155100) is characterized by ness with hearing defects of more than 70 db in the range of thrombocytopenia with giant platelets and Döhle-like inclu- high tone frequencies (2,000 and 4,000 Hz). Ophthalmologic sion bodies in granulocytes. The diagnosis was established examination gave normal findings. On the basis of thrombo- on the clinical grounds, assessing the involvement of kidney, cytopenia with giant platelets, hearing defect and renal ab- inner ear or eye 1, 2. A decade ago, it was recognized that normalities, the clinical diagnosis of Epstein syndrome was these different entities have unique genetic background, with made 2, 3.To further substantiate the Epstein syndrome diag- variable clinical expression, varying from mild macrothrom- nosis, peripheral blood smears were sent to a specialized bocytopenia with leukocyte inclusion bodies to a severe form laboratory 6. Immunocytochemistry for NMMHC-IIA or- complicated by hearing loss, cataract and renal failure 3–5. ganization in neutrophils was reported as normal, and there- Since all clinical features are the consequence of different fore, any further investigations were considered unnecessary. mutations in MYH9 gene, the new term “MYH9 disorders” Treatment with an angiotensin-converting enzyme (ACE) in- or “MYH9-related disease” (MYH9-RD) was proposed 4. hibitor was started and hearing amplification was prescribed. MYH9 is the gene encoding for the nonmuscle myosin heavy At follow up appointment, two months later, 24-hour protein chain IIA (NMMHC-IIA), which is localized on chromo- excretion was reduced to 3.5 g. Unfortunately, the patient some 22q11-13 5. stopped taking ACE inhibitor after two months and refused In this paper we presented the clinical and laboratory to use hearing amplifications. At the last regular follow-up findings, and the course of the disease in a 16-year-old boy visit, at his 16 years and 9 months of age (8 months after the suffering from MYH9-RD, with clinical features previously first referral) his blood pressure (BP) was 140/80 mmHg, se- classified as Epstein syndrome 1, which was misdiagnosed as rum urea 4.6 mmol/L, creatinine 89 ȝmol/L (1.0 mg/dL), the immune thrombocytopenia in early childhood. To the best of estimated GFR 91.9 mL/min per 1.73 m2, and proteinuria our knowledge this is the first report on MYH9-RD in Ser- 4.37 g/24hr. The patient did not come to follow-up visits bia, as well as in the region of Southeastern Europe. during the next three years. When we finally succeeded to contact him, he was 19 years and 8 months old, deaf and Case report with end-stage renal disease (ESRD); eGFR was 11.2 mL/min per 1.73 m2, serum urea and creatinine levels were The boy was admitted to our hospital at the Depart- 23 mmol/L and 726 ȝmol/L, respectively. Urinalysis con- ment of Hematology for the first time at the age of 16 years firmed hematuria and nephrotic range proteinuria (7g/24h). for evaluation of thrombocytopenia and for assessment for His platelet count remained low (4 × 109/L). splenectomy. Thrombocytopenia was discovered inciden- These findings convinced us more deeply in the diagno- tally at the age of five, and he was treated with prednis- sis of Epstein syndrome. Reanalysis of our patient’s periph- olone on several occasions, with no response. Although the eral blood smear was done at the Clinical Research Center of platelet count was most of the time below 10 × 109/L, the Nagoya Medical Center, Japan. Although granulocyte inclu- patient was almost free of bleeding symptoms. Surgical sion bodies were invisible on peripheral blood 7 smears (Fig- correction of hypospadia at the age of seven years took an ure 1A), immunofluorescence analysis revealed abnormal uneventful course, without unexpected bleeding. At the NMMHC-IIA localization in neutrophils (Figure 1B). After time of admission, full blood count showed a very low extraction of DNA from the remaining peripheral blood platelets count of 4 × 109/L, with giant platelets on blood smear, MYH9 sequence analysis disclosed p.R702C mis- smear (Figure 1A), hemoglobin (Hgb) was 138 g/L, red sense mutation, finally confirming our clinical diagnosis blood cells (RBC) 4.08 × 1012/L, mean corpusculer volume (Figure 1C). (MCV) 98.8 fl and white blood cells (WBC) 7.0 × 109/L. Bone marrow aspirate revealed normal cellularity, with Discussion small, hypolobulated megakaryocytes. Platelet kinetics, in- vestigated with indium-111 labelled autologous platelets, The main manifestations of MYH9-RD, i.e. thrombo- showed significantly decreased platelet production whose cytopenia, giant platelets, and granulocyte inclusion bodies, life span was shortened to 3.6 days. are present at birth. In most cases thrombocytopenia is found Urine analysis revealed microscopic hematuria and ne- incidentally, because the associated bleeding tendency is phrotic range proteinuria, with 24-hour protein excretion
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