Author(s): D. Babitha, Santhi Appavu

Email(s): Pradeephari2007@gmail.com

DOI: 10.5958/2454-2660.2021.00056.9   

Address: Mrs. D. Babitha1, Dr. Mrs. Santhi Appavu2
1Asst. Prof, Christian College of Nursing, Neyyoor, The Tamilnadu Dr. M.G.R. Medical University, Chennai.
2Principal, Christian College of Nursing, Neyyoor. The Tamilnadu Dr. M.G.R. Medical University, Chennai.
*Corresponding Author

Published In:   Volume - 9,      Issue - 2,     Year - 2021


ABSTRACT:
Background: Wiskott -Aldrich Syndrome (WAS) is an X_linked disorder characterized by clinical triad of micro thrombocytopenia, eczema and recurrent infections. It was first described by in 1937 by Dr. Alfred Wiskott, a German Pediatrician who identified three brothers with low platelet counts (thrombocytopenia), bloody diarrohea, skin rash (eczema) and recurrent ear infections. All three subsequently died at an early age from their sisters did not have symptoms. Seventeen years later, by studying a large six-generation Dutch family that the disease was passed down from generation to generation in an X- linked recessive manner.1 The gene product, (WAS) is a 502 amino acid protein expressed within the cytoplasm of non- erythroid hematopoietic cells. More than 300 unique mutations in the WAS gene have been identified. Depending on the mutations within the WASP gene protein, there is wide variability of clinical disease. In one study of 154 patients with Wiskott- Aldrich Syndrome only 30% had the classic presentation with thrombocytopenia, small platelets, eczema and immuno deficiency. 80% had eczema, 20% had only hematologic abnormalities and 5% had only infectious manifestations. Auto immune disease is common and occurs in upto 40_ 70% of patients. There is also a significantly increased risk of lympho reticular malignancy (10_20%) such as lymphoma, leukemia and myelodysplasia.2


Cite this article:
D. Babitha, Santhi Appavu. Wiskott - Aldrich Syndrome. Int. J. Nur. Edu. and Research. 2021; 9(2):234-237. doi: 10.5958/2454-2660.2021.00056.9

Cite(Electronic):
D. Babitha, Santhi Appavu. Wiskott - Aldrich Syndrome. Int. J. Nur. Edu. and Research. 2021; 9(2):234-237. doi: 10.5958/2454-2660.2021.00056.9   Available on: https://ijneronline.com/AbstractView.aspx?PID=2021-9-2-24


REFERENCES:
1.    Peter N.Huynh; Drugs, diseases, Allergy, Wiskott_Aldrich syndrome; 2019. Available from emedicine.medscape.com
2.    Karaman Kamuran et al, Wiskott_Aldrich syndrome , Two case reports with a novel mutation, 2017, Available from Pubmed.ncbi.nlm.nih.gov
3.    Wiskott_ aldrich syndrome Immune deficiency foundation, Available from Primary Immune .org
4.    Wiskott _Aldrich syndrome Wikipedia ,available from en.m.wikipedia.org
5.    Hans D Ochs, Wiskott- aldrich syndrome; Wolters Kluwer Publications; 2020, Available from uptodate.com
6.    ennifer M.puck; Wiskott - Aldrich syndrome; medline plus genetics; U.S. National library of medicine, National institute of health, 2019.available from medlineplus.gov
7.    Kluwer; Wiskott- aldrich syndrome wikipedia available from en.m.wikipedia.org
8.    Marita Bosticardo; Recent advances in understanding patho_ physiology of Wiskott_aldrich syndrome,2009, available from pubmed.ncbi.nlm.nih.gov.
9.    Johnson J,&Zhang; Wiskott Aldrich syndrome Genetic and rare diseases information center, 2017.available from rare diseases. info.nih.gov
10.    Filipovich AH; Wiskott_aldrich syndrome; Diagnosis& treatment, Boston Children's hospital,2009.available from childrenshospital.org
11.    .Michael A.Kaliner; The application of clinical genetics; Dove medical press limited publication,2005. available from ncbi.nlm.nih.gov
12.    Mohd Farid Baharin; A Journal of medical case reports, J Medicare publication, 2012. available from ncbi.nlm.nih.gov
13.    David Buchbinder, Diane J Nugend;Wiskott _ aldrich syndrome; Diagnosis, current management , and emerging treatment, 2012.
14.    Peter N.Huynh; Wiskott _aldrich syndrome Treatment management; 2019. available from emedicine. medscape .com

Recomonded Articles:

Author(s): Rajashree Vikas Khedekar

DOI: 10.5958/2454-2660.2017.00047.3         Access: Open Access Read More

Author(s): D. Babitha, Santhi Appavu

DOI: 10.5958/2454-2660.2021.00056.9         Access: Closed Access Read More

International Journal of Nursing Education and Research (IJNER) is an international, peer-reviewed journal devoted to nursing sciences..... Read more >>>

RNI: Not Available                     
DOI: 10.5958/2231–5713 

Popular Articles


Recent Articles




Tags