Open Access
Subscription or Fee Access
A Review on Pierson Syndrome
Abstract
Pierson syndrome, also known as microcoria-congenital nephrosis syndrome, is a rare illness that mostly affects the kidney and eye. In 1963, Pierson et al. published the first description of this illness. A genetic mutation in the LAMB2 gene causes this disorder, which is responsible for producing the laminin-2 chain. The retina, neuromuscular junctions, glomerular and ocular basement membranes, and this laminin subunit are all significant components. Congenital nephrotic syndrome is characterized by specific ocular (eye) abnormalities, such as microcoria (tiny, insensitive pupils). Supportive care is used to manage the symptoms of nephrotic syndrome and renal failure in Pierson syndrome. In patients with severe CNS disease, bilateral nephrectomy may be performed; the majority of cases necessitate renal replacement therapy and transplantation.
Keywords
References
AL Khamees A, AL Shemmari M. Abdullah AL Khamees, AL Shemmari M. Case of Pierson syndrome presented with hyphema, vitrous haemorrhage and subsequent neovascular glaucoma. From policies of the BMC journals. BMC Ophthalmol. 2023; 23 (1): 76. doi: 10.1186/s12886-023- 02826-3, PMID 36829142.
Wühl E, Kogan J, Zurowska A, Matejas V, Vandevoorde RG, Aigner T et al. Neurodevelopmental deficits in Pierson microcoria-congenital nephrosis syndrome. American J Med Gene. 2007; 143 (4): 311–319. Doi: 10.1002/ajmg.a.31564.
Arima M, Tsukamoto S, Akiyama R, Tachibana T, Hayashida A, Murayama M et al. Ocular findings in a case of Pierson syndrome with a novel mutation in laminin ß2 gene. J Am Assoc Pediatr Ophthalmol Strabismus. 2018; 22 (5): 401.e1–403.e1. doi: 10.1016/j.jaapos.2018.03.016.
Togawa H, Nakanishi K, Mukaiyama H, Hama T, Shima Y, Nakano M et al. Yoshikawa. First Japanese case of Pierson syndrome with mutations in LAMB2. J Japan Pedia Soc. 2013; 55 (2): 229–231. doi: 10.1111/j.1442-200X.2012.03629.x.
National Center for Advancing Translational Sciences. (2023). Pierson Syndrome: disease at a glance. [Online] Available at https://rarediseases.info.nih.gov/diseases/9420/pierson-syndrome/ [Accessed on July 2023]
Boston Childrens’ Hospital. (2023). What is Pearson syndrome? [Online] Available at https://www.childrenshospital.org/conditions/pearson-syndrome [Accessed on July 2023]
Hiser W, Thirumala V, Wang J, Gillespie R, Badreldin Bedri XJZ. Pierson syndrome in an infant with congenital nephrotic syndrome and unique brain pathology. Journal Int Soc Nephrol. 2020; 5 (12): 2371–2374. doi: 10.1016/j.ekir.2020.09.023.
Lusco MA, BehzadNajafian CE, Alpers AB, Fogo AJKD. Atlas of renal pathology: Pierson syndrome. Am J Kidney Dis. 2018; 71 (4): e3–e4. doi: 10.1053/j.ajkd.2018.02.001, PMID 29579420.
The University of Arizona Health Sciences. (2023). Pierson syndrome. [Online] Available at https://disorders.eyes.arizona.edu/disorders/pierson-syndrome. [Accessed on July 2023]
VanDeVoorde R, Witte D, Kogan J, Goebel J. Pierson syndrome: a novel cause of congenital nephrotic syndrome. J Am Acad Pediatr. 2006; 118 (2): e501–e505. Doi: 10.1542/peds.2005-3154, PMID 16864643.
Refbacks
- There are currently no refbacks.
Copyright (c) 2023 Research & Reviews: A Journal of Toxicology