article_metadata: Gerrit van den Berg Laura R Claus Bert van der Zwaag Phillis Lakeman Genomics England Research Consortium Lotte Kaasenbrood John A Sayer Marc R Lilien Albertien M van Eerde
article_metadata: 10.1159/000538037
article_metadata: Nephron
article_metadata: 2024;148(8):569-577.
article_metadata: case reports distal renal tubular acidosis genetics medullary sponge kidney nephrocalcinosis
article_metadata: CC BY-NC
article_metadata: https://pubmed.ncbi.nlm.nih.gov/38447554/
article_metadata: Acidosis, Renal Tubular / genetics Medullary Sponge Kidney / complications Medullary Sponge Kidney / genetics
article_metadata: Acidosis, Renal Tubular / genetics Medullary Sponge Kidney / complications Medullary Sponge Kidney / genetics Case Reports Research Support, Non-U.S. Gov't Adult Anion Exchange Protein 1, Erythrocyte / genetics Female Humans Male Middle Aged Vacuolar Proton-Translocating ATPases / genetics ATP6V1B1 protein, human Vacuolar Proton-Translocating ATPases SLC4A1 protein, human Anion Exchange Protein 1, Erythrocyte
article_metadata: PMC11332308
article_metadata: 38447554
article_metadata: Medullary Sponge Kidney and Its Relationship with Primary Distal Renal Tubular Acidosis: Case Reports and a Comprehensive Genetics-First Approach
article_metadata: 2024