Potter syndrome

Definition:

Potter syndrome is a rare fatal disorder that occurs in sporadic and hereditary forms. It affects predominantly male babies and is accompanied by severe oligohydramnios, polycystic kidney, bilateral renal agenesis, and obstructive uropathy during middle gestational weeks. Renal failure is the main defect in Potter syndrome. Other characteristic features include premature birth, breech presentation, atypical facial appearance, and limb malformations. Severe respiratory insufficiency leads to a fatal outcome in most infants. Potter syndrome has been divided into 4 distinct subgroups. Potter syndrome type I is referred to as autosomal recessive polycystic kidney disease (ARPKD), type II as renal dysplasia, type III as autosomal dominant polycystic kidney disease (ADPKD), and type IV occurs when a longstanding obstruction in either the kidney or ureter leads to cystic kidneys or hydronephrosis. Particularly types II-IV can be part of many syndromes.

References:

[1]. Binu Porath, et al. Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease. Am J Hum Genet. 2016 Jun 2;98(6):1193-1207. [Content Brief]

[2]. Camille Humbert, et al. Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans. Am J Hum Genet. 2014 Feb 6;94(2):288-94. [Content Brief]

[3]. Carsten Bergmann, et al. ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies. Pediatr Nephrol. 2015 Jan;30(1):15-30. [Content Brief]

[4]. Hila Barak, et al. FGF9 and FGF20 maintain the stemness of nephron progenitors in mice and man. Dev Cell. 2012 Jun 12;22(6):1191-207. [Content Brief]

[5]. Peter C Harris, et al. Polycystic kidney disease. Annu Rev Med. 2009;60:321-37. [Content Brief]

[6]. Saurav Sarkar, et al. Potter's sequence: a story of the rare, rarer and the rarest. Indian J Pathol Microbiol. 2015 Jan-Mar;58(1):102-4. [Content Brief]

[7]. Srikanth M Shastry, et al. Potter's Sequence. J Clin Neonatol. 2012 Jul;1(3):157-9. [Content Brief]

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