Case report

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

Mohamed El-Sawi¹ and Abdul-Rahman Shahein²

¹  Department of Medical Genetics, Ain Shams Medical School, 38 Abbassia, Cairo, Egypt

²  Department of Pediatrics, University of Toronto, 555 University Ave, Ontario, Canada M5G 1X8

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Journal of Medical Case Reports 2009, 3:6656doi:10.1186/1752-1947-3-6656

Published:	29 April 2009

Abstract

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.