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Isolated constitutional thrombocytopenia

MedGen UID:
1842544
•Concept ID:
C5680102
•
Disease or Syndrome
Synonyms: Constitutional thrombocytopenia without extra-hematopoietic manifestations; Non-syndromic constitutional thrombocytopenia
 
Orphanet: ORPHA477797

Recent clinical studies

Etiology

Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome.
Servais A, Frémeaux-Bacchi V, Lequintrec M, Salomon R, Blouin J, Knebelmann B, Grünfeld JP, Lesavre P, Noël LH, Fakhouri F
J Med Genet 2007 Mar;44(3):193-9. Epub 2006 Oct 3 doi: 10.1136/jmg.2006.045328. PMID: 17018561Free PMC Article
Malaria surveillance in New York City: 1991-1996.
McNeeley DF, Chu A, Lowe S, Layton M
Int J Infect Dis 1998 Jan-Mar;2(3):132-6. doi: 10.1016/s1201-9712(98)90114-x. PMID: 9531658
Interferon-alpha, zidovudine, and granulocyte-macrophage colony-stimulating factor: a phase I AIDS Clinical Trials Group study in patients with Kaposi's sarcoma associated with AIDS.
Krown SE, Paredes J, Bundow D, Polsky B, Gold JW, Flomenberg N
J Clin Oncol 1992 Aug;10(8):1344-51. doi: 10.1200/JCO.1992.10.8.1344. PMID: 1634925
Genetic thrombocytopenia with an autosomal dominant transmission: a study of 54 cases.
Najean Y, Lecompte T, Ardaillou N, Faille A, Dufour V
Nouv Rev Fr Hematol (1978) 1990;32(1):67-70. PMID: 2349084
Genetic thrombocytopenia with autosomal dominant transmission: a review of 54 cases.
Najean Y, Lecompte T
Br J Haematol 1990 Feb;74(2):203-8. doi: 10.1111/j.1365-2141.1990.tb02566.x. PMID: 2317455

Diagnosis

Incidental identification of neonatal babesiosis: a case report.
Tarun S, Mellis IA, Kilic A, Green DA, Tokiwa M, Berry GJ, Wu F, Shah SS
BMC Pediatr 2024 Nov 27;24(1):776. doi: 10.1186/s12887-024-05219-7. PMID: 39604915Free PMC Article
Differential proteomics study of platelets in asymptomatic constitutional macrothrombocytopenia: altered levels of cytoskeletal proteins.
Karmakar S, Saha S, Banerjee D, Chakrabarti A
Eur J Haematol 2015 Jan;94(1):43-50. Epub 2014 Jul 16 doi: 10.1111/ejh.12398. PMID: 24934967
Idiopathic thrombocytopenic purpura with isolated tuberculous splenic abscess.
Sinha N, Gupta N, Jhamb R
Singapore Med J 2009 Jan;50(1):e41-3. PMID: 19224070
Von Willebrand factor-cleaving protease and Upshaw-Schulman syndrome.
Fujimura Y, Matsumoto M, Yagi H, Yoshioka A, Matsui T, Titani K
Int J Hematol 2002 Jan;75(1):25-34. doi: 10.1007/BF02981975. PMID: 11843286
Genetic thrombocytopenia with autosomal dominant transmission: a review of 54 cases.
Najean Y, Lecompte T
Br J Haematol 1990 Feb;74(2):203-8. doi: 10.1111/j.1365-2141.1990.tb02566.x. PMID: 2317455

Therapy

Incidental identification of neonatal babesiosis: a case report.
Tarun S, Mellis IA, Kilic A, Green DA, Tokiwa M, Berry GJ, Wu F, Shah SS
BMC Pediatr 2024 Nov 27;24(1):776. doi: 10.1186/s12887-024-05219-7. PMID: 39604915Free PMC Article
Idiopathic thrombocytopenic purpura with isolated tuberculous splenic abscess.
Sinha N, Gupta N, Jhamb R
Singapore Med J 2009 Jan;50(1):e41-3. PMID: 19224070
Acquired deficiency of von Willebrand factor-cleaving protease in a patient with thrombotic thrombocytopenic purpura.
Furlan M, Robles R, Solenthaler M, Lämmle B
Blood 1998 Apr 15;91(8):2839-46. PMID: 9531594
Clinical toxicity of cytokines used as haemopoietic growth factors.
Vial T, Descotes J
Drug Saf 1995 Dec;13(6):371-406. doi: 10.2165/00002018-199513060-00006. PMID: 8652081
Interferon-alpha, zidovudine, and granulocyte-macrophage colony-stimulating factor: a phase I AIDS Clinical Trials Group study in patients with Kaposi's sarcoma associated with AIDS.
Krown SE, Paredes J, Bundow D, Polsky B, Gold JW, Flomenberg N
J Clin Oncol 1992 Aug;10(8):1344-51. doi: 10.1200/JCO.1992.10.8.1344. PMID: 1634925

Prognosis

Intravascular large B-cell lymphoma presenting as slowly progressive paraparesis with normal MRI features.
De Fino C, Arena V, Hohaus S, Di Iorio R, Bozzoli V, Mirabella M
J Neurol Sci 2012 Mar 15;314(1-2):171-4. Epub 2011 Nov 14 doi: 10.1016/j.jns.2011.10.015. PMID: 22088211
Von Willebrand factor-cleaving protease and Upshaw-Schulman syndrome.
Fujimura Y, Matsumoto M, Yagi H, Yoshioka A, Matsui T, Titani K
Int J Hematol 2002 Jan;75(1):25-34. doi: 10.1007/BF02981975. PMID: 11843286

Clinical prediction guides

Differential proteomics study of platelets in asymptomatic constitutional macrothrombocytopenia: altered levels of cytoskeletal proteins.
Karmakar S, Saha S, Banerjee D, Chakrabarti A
Eur J Haematol 2015 Jan;94(1):43-50. Epub 2014 Jul 16 doi: 10.1111/ejh.12398. PMID: 24934967
Complement factor H deficiency and posttransplantation glomerulonephritis with isolated C3 deposits.
Boyer O, Noël LH, Balzamo E, Guest G, Biebuyck N, Charbit M, Salomon R, Frémeaux-Bacchi V, Niaudet P
Am J Kidney Dis 2008 Apr;51(4):671-7. doi: 10.1053/j.ajkd.2007.11.032. PMID: 18371543
Von Willebrand factor-cleaving protease and Upshaw-Schulman syndrome.
Fujimura Y, Matsumoto M, Yagi H, Yoshioka A, Matsui T, Titani K
Int J Hematol 2002 Jan;75(1):25-34. doi: 10.1007/BF02981975. PMID: 11843286
Malaria surveillance in New York City: 1991-1996.
McNeeley DF, Chu A, Lowe S, Layton M
Int J Infect Dis 1998 Jan-Mar;2(3):132-6. doi: 10.1016/s1201-9712(98)90114-x. PMID: 9531658
Clinical toxicity of cytokines used as haemopoietic growth factors.
Vial T, Descotes J
Drug Saf 1995 Dec;13(6):371-406. doi: 10.2165/00002018-199513060-00006. PMID: 8652081

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