Author(s): I. D. Hemreiliu, Divia Acha Jacob, Manidipa Debnath, Bhoomika M

Email(s): idhemjune@gmail.com

DOI: 10.52711/2349-2996.2024.00017   

Address: I. D. Hemreiliu, Divia Acha Jacob, Manidipa Debnath, Bhoomika M
Department of Medical-Surgical Nursing, Jubilee Mission College of Nursing, Nagarbhavi, Bangalore - 560072, Karnataka, India.
*Corresponding Author

Published In:   Volume - 14,      Issue - 1,     Year - 2024


ABSTRACT:
Alport syndrome, also known as hereditary nephritis, is a rare genetic disorder that primarily affects the kidneys and can also involve the ears and eyes. It is caused by mutations in genes encoding for type IV collagen which are responsible for the production of certain proteins in the basement membrane of the kidneys. The mutation results in abnormal structure and function of the kidneys. Individuals may develop end-stage renal disease as the disease progresses, requiring dialysis or kidney transplantation for survival. It typically affects males more severely than females. As per reviews from several studies, there is currently no definite cure for Alport syndrome; the treatment is mostly based on managing the symptoms and slowing down the disease progression. Hence, patients with Alport syndrome must be educated and made aware enough to combat their condition and avoid life-threatening complicationsthat can potentially happen if proper measures are not taken. Meanwhile, genetic counseling and testing should also be given much importance as it helpindividuals with Alport syndrome or those at risk of carrying the gene mutation to determine the likelihood of passing the condition to future generations and provide information for family planning decisions.


Cite this article:
I. D. Hemreiliu, Divia Acha Jacob, Manidipa Debnath, Bhoomika M. Alport Syndrome: A Hereditary Disorder. Asian Journal of Nursing Education and Research. 2024; 14(1):85-9. doi: 10.52711/2349-2996.2024.00017

Cite(Electronic):
I. D. Hemreiliu, Divia Acha Jacob, Manidipa Debnath, Bhoomika M. Alport Syndrome: A Hereditary Disorder. Asian Journal of Nursing Education and Research. 2024; 14(1):85-9. doi: 10.52711/2349-2996.2024.00017   Available on: https://ajner.com/AbstractView.aspx?PID=2024-14-1-17


REFERENCES:
1.    Cosgrove D et al. Collagen IV diseases: A focus on the glomerular basement membrane in Alport syndrome. Matrix Biol. 2017; 57-58: 45-54. doi:10.1016/j.matbio.2016.08.005  
2.    Moses Kandula, P. Karthika, Nadira. Good Pasture Syndrome- A Case Presentation. Int. J. Nur. Edu. and Research. 2019; 7(3):408-411. doi: 10.5958/2454-2660.2019.00092.9  
3.    Rashmi Sharma. Karyotyping: Spying the Faulty Genes. Asian J. Nursing Education and Research. 2019; 9(3):469-470. doi:10.5958/2349-2996.2019.00098.3  
4.    Pardeep Kumar Sharma, Amit Sachdeva, Cherry Bhargava. Fuzzy logic: A tool to predict renal diseases. Research Journal of Pharmacy and Technology. 2021; 14(5): 2598-2. doi:10.52711/0974-360X.2021.00457  
5.    Saeed HK et al. Sensorineural hearing loss in patients with chronic renal failure on hemodialysis in Basrah, Iraq. Ci Ji Yi Xue Za Zhi. 2018; 30(4):216-20. doi: 10.4103/tcmj.tcmj_149_17.  
6.    Quinlan, Catherine1,2,3; Rheault, Michelle N.4. Genetic Basis of Type IV Collagen Disorders of the Kidney. CJASN 202116(7):1101-9, doi: 10.2215/CJN.19171220  
7.    Bekheirnia, Mir Reza. Genotype–Phenotype Correlation in X-Linked Alport Syndrome. Alport Syndrome. Journal of the American Society of Nephrology 2010; 21(5): 876-83, doi:10.1681/ASN.2009070784  
8.    Clifford E. Kashtan and Jie Ding. Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group. Kidney International. 2018; 93(5): 1045-51 doi.org/10.1016/j.kint.2017.12.018.  
9.    Mónica Furlano et al. Clinical and Genetic Features of Autosomal Dominant Alport Syndrome. PubMed.  33838161.American Journal of Kidney Disease. 2021; 78(4): 560-70.  
10.    BradleyA Warady. Rajiv Agarwal. Alport Syndrome Classification and Management. Kidney medicine, 2020; 2(5): 639-649. doi.org/10.1016/j.xkme.2020.05.014.
11.    Karl Tryggvason and Jing Zhou. Molecular genetics of Alport syndrome, Kidney International, 1993; 43(1): 38-44 doi.org/10.1038/ki.1993.8.
12.    J. Karpagam, Pandimeena. P. Alport Syndrome. International Journal of Nursing Education and Research. 2021; 9(3):373-5.doi: 10.52711/2454-2660.2021.00087  
13.    Monika, Kiran Batra, Shaveta Sharma. A Descriptive Study to Assess the Quality of Life in ESRD (End Stage Renal Disease) Patients Undergoing Hemodialysis in Selected Hospital of Mohali, Punjab. Int. J. Nur. Edu. and Research. 2018; 6(1): 31-36. doi 10.5958/2454-2660.2018.00007.  
14.    Kavitha. T. A, Study to Evaluate the Effectiveness of Structured Teaching Program on Modification of Daily Life Patterns Among Hypertensive Clients Attending OPD at Selected Hospital, Bangalore. Asian J. Nur. Edu. and Research 2016; 6(1): 93-95. doi:10.5958/2349-2996.2016.00019.7  
15.    Betsy Joseph, Anuradha V. P, Jayakrishnan S. S, Ajith B. Goodpasture’s Syndrome: An Autoimmune Conformational Disease. Asian J. Pharm. Res. 2019; 9(3):172-176. doi: 10.5958/2231-5691.2019.00027.3   
16.    Kashtan CE. Achieving Early Diagnosis and Treatment. American Journal of kidney disease.    2021; 77(2): 272-9.  doi:10.1053/j.ajkd.2020.03.026.  t
17.    Judy Savige et al. Guidelines for Genetic Testing and Management of Alport Syndrome. Clinical Journal of the American Society of Nephrology. 2022; 17(1): 143–54.  doi:10.2215/CJN.04230321.  
18.    Bhawana. B. Bhende. Article on Tay-Sachs Disease. International Journal of Nursing Education and Research. 2021; 9(4):475-8. doi:10.52711/2454-2660.2021.00110  
19.    Roser Torra et al New therapeutic options for Alport syndrome. Nephrology Dialysis Transplantation. 2019; 34(8): 1272-9. doi.org/10.1093/ndt/gfz131  
20.    B Meher, T Satapathy, J Parida, A Maharana. Comparative Study between ACE Inhibitors and ARB Inhypertensive Patients. Research J. Pharmacology and Pharmacodynamics. 2012; 4(5): 263-266.  
21.    Jophin Joseph. Holt-Oram Syndrome. Asian J. Nur. Edu. and Research.2017; 7(1): 126-132. doi:10.5958/2349-2996.2017.00026.X  
22.    Simon Watson et al. Alport syndrome. National Library of Medicine. Treasure Island (FL): Stat Pearls Publishing; Jan 2023.  

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