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Medullary sponge kidney presenting in a neonate with distal renal tubular acidosis and failure to thrive: a case report

INTRODUCTION: Medullary sponge kidney is a congenital anomaly characterized by diffuse ectasy of the collecting tubules of one or both kidneys. It is usually diagnosed in the second or third decade of life. CASE PRESENTATION: Distal renal tubular acidosis is commonly observed in patients with medull...

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Autores principales: El-Sawi, Mohamed, Shahein, Abdul-Rahman
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2726488/
https://www.ncbi.nlm.nih.gov/pubmed/19830120
http://dx.doi.org/10.1186/1752-1947-3-6656
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author El-Sawi, Mohamed
Shahein, Abdul-Rahman
author_facet El-Sawi, Mohamed
Shahein, Abdul-Rahman
author_sort El-Sawi, Mohamed
collection PubMed
description INTRODUCTION: Medullary sponge kidney is a congenital anomaly characterized by diffuse ectasy of the collecting tubules of one or both kidneys. It is usually diagnosed in the second or third decade of life. CASE PRESENTATION: Distal renal tubular acidosis is commonly observed in patients with medullary sponge kidney. We describe here a 50-day-old Egyptian Caucasian girl with medullary sponge kidney who had features of distal renal tubular acidosis, (persistent alkaline urine, hypercalciuria, hypocitraturia) and failure to thrive. Renal ultrasound revealed left renal increased medullary echogenicity and bilateral nephrocalcinosis. CONCLUSION: Early gene(s) expression of medullary sponge kidney disease might be responsible for persistent metabolic acidosis during the neonatal period.
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spelling pubmed-27264882009-10-14 Medullary sponge kidney presenting in a neonate with distal renal tubular acidosis and failure to thrive: a case report El-Sawi, Mohamed Shahein, Abdul-Rahman J Med Case Reports Case report INTRODUCTION: Medullary sponge kidney is a congenital anomaly characterized by diffuse ectasy of the collecting tubules of one or both kidneys. It is usually diagnosed in the second or third decade of life. CASE PRESENTATION: Distal renal tubular acidosis is commonly observed in patients with medullary sponge kidney. We describe here a 50-day-old Egyptian Caucasian girl with medullary sponge kidney who had features of distal renal tubular acidosis, (persistent alkaline urine, hypercalciuria, hypocitraturia) and failure to thrive. Renal ultrasound revealed left renal increased medullary echogenicity and bilateral nephrocalcinosis. CONCLUSION: Early gene(s) expression of medullary sponge kidney disease might be responsible for persistent metabolic acidosis during the neonatal period. BioMed Central 2009-04-29 /pmc/articles/PMC2726488/ /pubmed/19830120 http://dx.doi.org/10.1186/1752-1947-3-6656 Text en Copyright ©2009 El-Sawi et al; licensee Cases Network Ltd. licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/3.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case report
El-Sawi, Mohamed
Shahein, Abdul-Rahman
Medullary sponge kidney presenting in a neonate with distal renal tubular acidosis and failure to thrive: a case report
title Medullary sponge kidney presenting in a neonate with distal renal tubular acidosis and failure to thrive: a case report
title_full Medullary sponge kidney presenting in a neonate with distal renal tubular acidosis and failure to thrive: a case report
title_fullStr Medullary sponge kidney presenting in a neonate with distal renal tubular acidosis and failure to thrive: a case report
title_full_unstemmed Medullary sponge kidney presenting in a neonate with distal renal tubular acidosis and failure to thrive: a case report
title_short Medullary sponge kidney presenting in a neonate with distal renal tubular acidosis and failure to thrive: a case report
title_sort medullary sponge kidney presenting in a neonate with distal renal tubular acidosis and failure to thrive: a case report
topic Case report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2726488/
https://www.ncbi.nlm.nih.gov/pubmed/19830120
http://dx.doi.org/10.1186/1752-1947-3-6656
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