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Pierson Syndrome Case Study

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Genetic Basis and Treatment in Pierson Syndrome
Joseph Rasmussen-Dykes
Colorado State University

Pierson syndrome is an extremely rare congenital nephrotic syndrome usually expressed in conjunction with ocular abnormalities, first described in 1963 (Pierson, Cordier, Hervoue & Rauber, 1963). Microcoria is often readily apparent at birth, as the pupils appear very small and are non-reactive to light. Nephrotic malfunction generally manifests in the first three months of life but is occasionally diagnosed much later (Lehnhardt et al., 2012; Zhao et al., 2010). In a case study published in 2017, a 20 day year old male presented with generalized edema, hypertension, and microcoria; laboratory testing reflected osmoregulatory and excretory …show more content…

Affected individuals rarely survive the neonatal period; however, dialysis and kidney transplants may extend the lives of those individuals who survive long enough to receive such treatments (Zhao et al., 2010; Guler et al., 2017). The successful transplant in the reviewed study is the only long term treatment option for those affected by Pierson syndrome. Unfortunately, very few patients affected by the disorder live long enough to receive dialysis, let alone qualify for a kidney transplant. Rarely, as in the reviewed case, early diagnosis and intervention may extend an individual’s life long enough for treatment (Guler et al., 2017). However, the improved prognoses of affected individuals will require new knowledge, research, and understanding, particularly with regards to modifying factors; aminoglycosides have also been proposed as a possible avenue of further related research (Matejas et al., 2012). Additionally, awareness of Pierson syndrome may increase interest for genetic testing of family members related to affected …show more content…

(2017). Kidney transplantation in a child with Pierson syndrome. Pediatric Transplantation, 21(8), e13076. http://dx.doi.org/10.1111/petr.13076
Lehnhardt A., Lama, A., Amann, K., Matejas, V., Zenker, M., Kemper, M.J. (2012). Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR. Pediatric Nephrology 27(5). 865-868. https://doi-org.ezproxy2.library.colostate.edu/10.1007/s00467-011-2088-2
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Pierson, M., Cordier, J., Hervouet, F. Rauber, G. (1963). An unusual congenital and familial con genital malformative combination involving the eye and kidney. Journal de Genetique Humaine 12(3),

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