Atypical Clinical Presentation of Autosomal Recessive Polycystic Kidney Mimicking Medullary Sponge Kidney Disease

Overview

Journal Kidney Int Rep

Publisher Elsevier

Specialty Nephrology

Date 2022 May 2

PMID 35497799

Authors

Emmanuel Letavernier

Madeline Schwoehrer

Marine Livrozet

Camille Saint-Jacques

Laure Raymond

Radoslava Saraeva

Jean-Philippe Haymann

Vincent Frochot

Michel Daudon

Laurent Mesnard

Affiliations

Soon will be listed here.

Citing Articles

Phenotypic Discordance among Siblings with Autosomal Recessive Polycystic Kidney Disease: Case Report and Review of the Literature.

Henein M, Russo F, Sentell Z, Goupil R, Kitzler T Nephron. 2024; 148(11-12):823-831.

PMID: 39467534 PMC: 11651334. DOI: 10.1159/000540741.

A case of diffuse kidney hyperechogenicity in early childhood associated with biallelic PKHD1 variants.

Krall P, Faundes V, Galvez C, Cavagnaro F Pediatr Nephrol. 2024; 39(9):2633-2636.

PMID: 38502226 DOI: 10.1007/s00467-024-06348-y.

Medullary Sponge Kidney and Its Relationship with Primary Distal Renal Tubular Acidosis: Case Reports and a Comprehensive Genetics-First Approach.

van den Berg G, Claus L, Van der Zwaag B, Lakeman P, Kaasenbrood L, Sayer J Nephron. 2024; 148(8):569-577.

PMID: 38447554 PMC: 11332308. DOI: 10.1159/000538037.

References

Gambaro G, Goldfarb D, Baccaro R, Hirsch J, Topilow N, DAlonzo S . Chronic pain in medullary sponge kidney: a rare and never described clinical presentation. J Nephrol. 2018; 31(4):537-542. DOI: 10.1007/s40620-018-0480-8. View

Torregrossa R, Anglani F, Fabris A, Gozzini A, Tanini A, Del Prete D . Identification of GDNF gene sequence variations in patients with medullary sponge kidney disease. Clin J Am Soc Nephrol. 2010; 5(7):1205-10. PMC: 2893072. DOI: 10.2215/CJN.07551009. View

Gunay-Aygun M, Turkbey B, Bryant J, Daryanani K, Gerstein M, Piwnica-Worms K . Hepatorenal findings in obligate heterozygotes for autosomal recessive polycystic kidney disease. Mol Genet Metab. 2011; 104(4):677-81. PMC: 3224207. DOI: 10.1016/j.ymgme.2011.09.001. View

Laube M, Hess B, Terrier F, Vock P, Jaeger P . [Prevalence of medullary sponge kidney in patients with and without nephrolithiasis]. Praxis (Bern 1994). 1995; 84(43):1224-30. View

Shan D, Rezonzew G, Mullen S, Roye R, Zhou J, Chumley P . Heterozygous Pkhd1 mice develop cystic liver disease and proximal tubule ectasia that mimics radiographic signs of medullary sponge kidney. Am J Physiol Renal Physiol. 2019; 316(3):F463-F472. PMC: 6442377. DOI: 10.1152/ajprenal.00181.2018. View