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Medullary Sponge Kidney and Its Relationship with Primary Distal Renal Tubular Acidosis: Case Reports and a Comprehensive Genetics-First Approach.
Nephron
August 2024
Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Article Synopsis
- * There are conflicting reports suggesting that MSK may be either a consequence of secondary distal renal tubular acidosis (dRTA) or a complication of primary dRTA, with recent cases confirming the latter through genetic analysis.
- * A comprehensive genetic analysis revealed that many patients with MSK are not tested for genes related to dRTA, indicating that the diagnosis of MSK should consider a wider range of genetic factors, particularly those linked to primary dRTA.
Detailed Nephro-urological Management of a Case of Medullary Sponge Kidney with Distal Renal Tubular Acidosis and Obstructive Uropathy.
Saudi J Kidney Dis Transpl
November 2022
Department of Medicine, Nephrology Unit, Amiri Hospital, Ministry of Health, Kuwait City, Kuwait.
Article Synopsis
- * The case report highlights a woman with a severe form of MSK, experiencing complications like kidney stones and weakened kidneys due to dRTA and nephrocalcinosis.
- * Treatment involved using laser lithotripsy to remove a large kidney stone, along with a special solution and medication to address biochemical imbalances, improving her condition over the course of a year.
Medullary Sponge Kidney: Current Perspectives.
Int J Nephrol Renovasc Dis
September 2019
Department of Medicine, Division of Pulmonary Critical Care and Sleep Medicine, Stony Brook University Hospital, Stony Brook, NY, USA.
Medullary Sponge Kidney (MSK) disease is a rare congenital malformation of the distal nephron where cystic dilatation is appreciable in the collecting ducts and renal papillae. Most cases of the malformation are thought to arise from a malfunction within neurotrophic factor and tyrosine kinase interactions. Presentation and prognosis are usually indolent; however, they include urinary tract infections (UTI), nephrolithiasis and nephrocalcinosis, distal renal tubular acidosis (dRTA) and hypocitraturia.
View Article and Find Full Text PDFCharacteristics of renal papillae in kidney stone formers.
Minerva Urol Nefrol
December 2016
Department of Urologic Surgery, Vanderbilt Medical Center, Nashville, TN, USA -
The mechanism of kidney stone formation is not well understood. In order to better understand the pathophysiology for specific kidney stone compositions and systemic diseases associated with kidney stones, endoscopic papillary mapping studies with concurrent biopsies have been conducted. This review will summarize the findings of these studies and proposed mechanisms for thirteen disease processes associated with kidney stones.
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