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Nephroquiz 10: a 16-Year-Old Patient with Thrombocytopenia and Kidney Failure

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Nephroquiz 10: a 16-Year-Old Patient with Thrombocytopenia and Kidney Failure KIDNEY DISEASES Nephroquiz 10: A 16-Year-Old Patient With Thrombocytopenia and Kidney Failure Maryam Ghazizadeh,1 Matin Ghazizadeh,2 Mohsen Nafar3 IJKD 2017;11:469-71 1Department of Hematology www.ijkd.org and Oncology, Modarres Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran 2Department of Otorhinolaryngology, Head and Neck Surgery, Taleghani Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran 3Chronic Kidney Disease Research Center, Shahid Labbafinejad Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran CASE count was adequate. Laboratory tests including A 16-year-old boy was admitted because of erythrocyte sedimentation rate; C-reactive protein; thrombocytopenia, proteinuria, and progressive completements C3, C4, and CH50; antineuclear kidney failure. He also had a history of antibodies, double-stranded DNA, and anti-Ro were recurrent epistaxis, ophthalmologic problems, done considering systemic lupus erythmatosus, and sensorineural hearing loss since childhood. but all of them were negative. Anticardiolipin Family and drug history were unremarkable. antibodies, anti-β2 microglycoprotein, and lupus His hematologic abnormalities were erroneously anticoagulant were negative, so antiphospholipid diagnosed as idiopathic thrombocytopenic antibody syndrome was ruled out. purpura. He had received prednisone for 6 months On the following days, the condition was without any response. Physical examination was complicated by generalized seizure and loss of unremarkable. Complete blood count revealed conciseness. The detected schistocytes in the PBS thrombocytopenia and anemia. Urinalysis showed were 1%. The lactate dehydrogenase level was proteinuria (3+). Serum creatinine was raised up normal primarily; but thereafter, it increased to 10 mg/dL. Kidney biopsy was not performed to 850 U/L. He underwent plasma exchange in because of severe thrombocytopenia. order to manage thrombotic thrombocytopenic Nephroquiz On the following days, serum creatinine was purpura (TTP), but it was not effective. In further raised. Despite adequate hydration, uremic addition, a disintegrin and metalloproteinase symptoms appeared, and therefore, hemodialysis with a thrombospondin type 1 motif, member 13 was initiated via a central vein catheter. (ADAMTS13) level was normal, verifying that the Macrothrombocytopenia and neutrophil inclusion patient was not complicated by TTP. bodies were detected in his peripheral blood smear Later, alveolar hemorrhage occurred and the (PBS). Coagulation tests were normal. Bone marrow patient died. The last laboratory study was molecular biopsy was done. Erythroid hyperplasia was shown genetic test. MYH9 mutation was detected, so the in the bone marrow examination. Megakaryocytes diagnosis of Fechtner syndrome was confirmed. Iranian Journal of Kidney Diseases | Volume 11 | Number 6 | November 2017 469 Nephroquiz QUIZ be due to thrombotic microangiopathic hemolytic What are the Differential Diagnoses of anemia, which is characterized by the presence Thrombocytopenia and Kidney Failure? of schistocytes in the PBS.5 Vasculitis is the main One of the differential diagnoses of pathogenesis of thrombotic microangiopathic thrombocytopenia and kidney failure is TTP. hemolytic anemia.6-7 It is described as thrombi in the small blood Antiphospholipid antibody syndrome (APS) vessels, microangiopathic hemolytic anemia, should be considered in the differential diagnosis of thrombocytopenia, kideny failure, central nervous kidney failure and thrombocytopenia. Hypertension, system dysfunction, and fever. Microangiopathic proteinuria, hematuria, hematologic abnormalities, hemolytic anemia in TTP is associated with and acute or chronic kidney failure are usually schistocytes in the PBS. The etiology of TTP can be observed in APS. The most common hematologic ADAMTS13 deficiency or antibody directed against feature of APS is thrombocytopenia (22% to 42%).8 ADAMTS13; it may be hereditary or acquired.1 Renal involvement is seen in both primary and Plasma exchange is effective in more than 90% of secondary APS,9 with the frequency of 25%. Renal TTP patients.2-3 arterial thrombosis, infarction, and end-stage Drug-induced thrombotic microangiopathy renal disease usually occur in APS.10 Increased (DITMA) is another differential diagnosis of intimal thickness and medial hyperplasia are the thrombocytopenia and kidney failure. Some consequence of thrombotic lesions.11 drugs may induce TTP or hemolytic uremic Another differential diagnosis is advanced syndrome (HUS). The most common drugs that liver disease and hepatorenal syndrome. are responsible for DITMA include quinine, Thrombocytopenia is a current manifestation cyclosporin, sirolimus, tacrolimus, and interfrone. of advanced liver disease, especially cirrhosis. Drug-induced thrombotic microangiopathy is Thrombocytopenia in cirrhosis is mild to moderate characterized by microangiopathic hemolytic and occurs due to hypersplenism. Kidney failure is anemia, thrombocytopenia, and kidney failure, not frequent in the advanced liver disease except for but ADAMTS13 activity is normal. Kidney biopsy the hepatorenal syndrome. This syndrome occurs is not necessary in DITMA. in 40% of patients with cirrhosis and is described Another differential diagnosis is cancer- by oliguria in the absence of proteinuria. related microangiopathic hemolytic anemia that The definite diagnosis of the reported case is a paraneoplastic syndrome associated with is Fechtner syndrome which is an autosomal solid cancer such as stomach, breast, lung, and dominant variant of Alport syndrome. It is prostate. Disseminated intravascular coagulation manifested by nephritis, sensorineural hearing loss, and pulmonary symptoms were more common in cataract formation, macrothrombocytopenia, and cancer-related microangiopathic hemolytic anemia. polymorphonuclear inclusion bodies. It belongs Plasma exchange is not effective except of prostate to a group of hereditary macrothrombocytopenia cancer and HUS. including Sebastian syndrome, Fechtner syndrome, Hemolytic uremic syndrome should be considered May-Heglin anomaly, and Epstein syndrome.12 The as another possible diagnosis. Patients with HUS common genetic finding in all of these syndromes suffer from vascular lesions similar to the lesions is mutation in the gene encoding the heavy chain in TTP, but vascular involvement in HUS is more of nonmuscle myosine-9.13 Macrothrombocytes prominent in the kidney than the central nervous and neutrophils with prominent dohle-like bodies system. Thrombocytopenia, microangiopathic are demonstrated in the PBS of patients with hemolytic anemia, and acute kidney dysfunction May-Hegglin anomaly, Fechtner syndrome, and are the significant clinical features in HUS.4 Sebastian syndrome.14 Renal abnormalities such Systemic lupus erythmatosus is another as hematuria and proteinuria are manifested possible diagnosis. Clinical manifestations are in Fechtner syndrome and Epstein Syndrome.14 neuropsychiatric symptoms, renal involvement, Histopathologic examination of the kidney reveals thrombocytopenia, and hemolytic anemia. hyalinization of glomeruli and proliferation of Thrombocytopenia in systemic lupus erythmatosus mesangial cells.15 Severe seizures and thrombotic is caused by antiplatelet antibodies. Also, it can events have been described in May-Hegglin 470 Iranian Journal of Kidney Diseases | Volume 11 | Number 6 | November 2017 Nephroquiz anomaly. 16 7. George JN, Vesely SK, James JA. Overlapping features of Renal manifestations of Fechtner syndrome thrombotic thrombocytopenic purpura and systemic lupus erythematosus. Southern Med J. 2007;100:512-5. range from microscopic proteinuria, hematuria, 8. Uthman I, Godeau B, Taher A, Khamashta M. The hypertancion, and chronic kidney disease that hematologic manifestation of the antiphospholipid may lead to the need for kidney transplantation. syndrome. Blood Rev. 2008;22:187-94. Fechtner syndrome can progress to end-stage 9. Marcantonio C, Emmanuaele C, Scolari F. Renal renal disease by the age of 20 to 40 years, due to involvement in primary antiphospholipid syndrom. J Nephrol. 2016;29:507-15. hereditary nephritis. Hematologic manifestations of Fechtner syndrome include recurrent epistaxis, 10. Farrugia E, Torres VE, Gastineau D, et al. Lupus anticoagulant in systemic lupus erythematusus a gingival bleeding, easy bruising, menorrhagia, clinical and renal pathological study. Am J kidney Dis. and extensive bleeding associated with surgical 1992;20:463-71. procedures. Platelet aggregation test and bone 11. Kincaid-Smith P, Fairly KF. Kloss M. Lupus anticoagulant marrow biopsy are normal in Fechtner syndrome. associated with renal thrombotic microangiopathy and pregnancy related renal failure. QJM. 198;69:795-815. Platelet count ranges from 50 × 109/L to 91× 9 15 12. Saito H, Kunishima S. Historical hematology: May– 10 /L. High frequency sensory neural hearing loss Hegglin anomaly. Am J Hematol. 2008;83:304-6. usually is identified by the 3rd decade. Ophthalmic 13. Savoia A, De Rocco D, Panza E, et al. Heavy chain abnormalities including glaucoma and cataract can myosin 9 related disease, neutrophil inclusions of myosin9 appear at the early childhood. as a pathogonomonic sign of the disorder. Thromb There is no general suggestion consept the Haemost. 2010;103:826-32. management of Fechtner syndrome. Corticosteroids 14. Althaus K, Greinacher A. MYH-9 related platelet disorders: strategies for management and diagnosis. Transfus Med and splenectomy are ineffective.
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