Medullary sponge kidney: an unsolved enigma and its association with distal renal tubular acidosis

Gerrit van den Berg; Laura Claus; Bert van der Zwaag; Phillis Lakeman; Genomics England Research Consortium; Lotte Kaasenbrood; J.A. Sayer; Marc Lilien; AM van Eerde

Medullary sponge kidney: an unsolved enigma and its association with distal renal tubular acidosis

Gerrit van den Berg, Laura Claus, Bert van der Zwaag, Phillis Lakeman, Genomics England Research Consortium, Lotte Kaasenbrood, J.A. Sayer, Marc Lilien, AM van Eerde

Research output: Contribution to conference › Abstract › Academic

Abstract

Medullary sponge kidney (MSK) is a description of radiographic
features. MSK has an association with distal renal
tubular acidosis (dRTA). However, the pathogenesis of
MSK remains unclear.
We report three patients with metabolic acidosis and MSK,
in whom primary dRTA was diagnosed by molecular genetic
analyses including the SLC4A1 and ATP6V1B1
genes. In addition, an extensive genetics first approach
using the 100,000 Genomes Rare Diseases Project
(100KGP) dataset showed that many patients with medullary
sponge kidney related phenotypes are genetically
tested with a gene panel that does not contain dRTA
associated genes, revealing opportunities for missed
genetic diagnosis.
Our cases highlight that the radiological description of
MSK is not a straightforward disease nor a clinical phenotype.
Therefore, when a MSK appearance is noted, a
broader set of causes should be considered including
genetic causes of dRTA as the underlying treatable
reason for medullary imaging abnormalities.

Original language	English
Publication status	Published - 2023
Event	European Human Genetics Conference - Glasgow, United Kingdom Duration: 10 Jun 2023 → 13 Jun 2023

Conference

Conference	European Human Genetics Conference
Country/Territory	United Kingdom
City	Glasgow
Period	10/06/23 → 13/06/23

Cite this

@conference{7a6d035fb7d44fb7acd52bddfdb022fb,

title = "Medullary sponge kidney: an unsolved enigma and its association with distal renal tubular acidosis",

abstract = "Medullary sponge kidney (MSK) is a description of radiographicfeatures. MSK has an association with distal renaltubular acidosis (dRTA). However, the pathogenesis ofMSK remains unclear.We report three patients with metabolic acidosis and MSK,in whom primary dRTA was diagnosed by molecular geneticanalyses including the SLC4A1 and ATP6V1B1genes. In addition, an extensive genetics first approachusing the 100,000 Genomes Rare Diseases Project(100KGP) dataset showed that many patients with medullarysponge kidney related phenotypes are geneticallytested with a gene panel that does not contain dRTAassociated genes, revealing opportunities for missedgenetic diagnosis.Our cases highlight that the radiological description ofMSK is not a straightforward disease nor a clinical phenotype.Therefore, when a MSK appearance is noted, abroader set of causes should be considered includinggenetic causes of dRTA as the underlying treatablereason for medullary imaging abnormalities.",

author = "{van den Berg}, Gerrit and Laura Claus and {van der Zwaag}, Bert and Phillis Lakeman and Consortium, {Genomics England Research} and Lotte Kaasenbrood and J.A. Sayer and Marc Lilien and {van Eerde}, AM",

year = "2023",

language = "English",

note = "European Human Genetics Conference ; Conference date: 10-06-2023 Through 13-06-2023",

}

TY - CONF

T1 - Medullary sponge kidney: an unsolved enigma and its association with distal renal tubular acidosis

AU - van den Berg, Gerrit

AU - Claus, Laura

AU - van der Zwaag, Bert

AU - Lakeman, Phillis

AU - Consortium, Genomics England Research

AU - Kaasenbrood, Lotte

AU - Sayer, J.A.

AU - Lilien, Marc

AU - van Eerde, AM

PY - 2023

Y1 - 2023

N2 - Medullary sponge kidney (MSK) is a description of radiographicfeatures. MSK has an association with distal renaltubular acidosis (dRTA). However, the pathogenesis ofMSK remains unclear.We report three patients with metabolic acidosis and MSK,in whom primary dRTA was diagnosed by molecular geneticanalyses including the SLC4A1 and ATP6V1B1genes. In addition, an extensive genetics first approachusing the 100,000 Genomes Rare Diseases Project(100KGP) dataset showed that many patients with medullarysponge kidney related phenotypes are geneticallytested with a gene panel that does not contain dRTAassociated genes, revealing opportunities for missedgenetic diagnosis.Our cases highlight that the radiological description ofMSK is not a straightforward disease nor a clinical phenotype.Therefore, when a MSK appearance is noted, abroader set of causes should be considered includinggenetic causes of dRTA as the underlying treatablereason for medullary imaging abnormalities.

AB - Medullary sponge kidney (MSK) is a description of radiographicfeatures. MSK has an association with distal renaltubular acidosis (dRTA). However, the pathogenesis ofMSK remains unclear.We report three patients with metabolic acidosis and MSK,in whom primary dRTA was diagnosed by molecular geneticanalyses including the SLC4A1 and ATP6V1B1genes. In addition, an extensive genetics first approachusing the 100,000 Genomes Rare Diseases Project(100KGP) dataset showed that many patients with medullarysponge kidney related phenotypes are geneticallytested with a gene panel that does not contain dRTAassociated genes, revealing opportunities for missedgenetic diagnosis.Our cases highlight that the radiological description ofMSK is not a straightforward disease nor a clinical phenotype.Therefore, when a MSK appearance is noted, abroader set of causes should be considered includinggenetic causes of dRTA as the underlying treatablereason for medullary imaging abnormalities.

M3 - Abstract

T2 - European Human Genetics Conference

Y2 - 10 June 2023 through 13 June 2023

ER -

Medullary sponge kidney: an unsolved enigma and its association with distal renal tubular acidosis

Abstract

Conference

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