tailieunhanh - Báo cáo y học: "Medullary sponge kidney presenting in a neonate with distal renal tubular acidosis and failure to thrive: a case report"

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Medullary sponge kidney presenting in a neonate with distal renal tubular acidosis and failure to thrive: a case report | JOURNAL OF MEDICAL Sr CASE REPORTS 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 Open Access Address department of Medical Genetics Ain Shams Medical School 38 Abbassia Cairo Egypt and department of Pediatrics University of Toronto 555 University Ave Ontario Canada M5G 1X8 Email MES - elsawi55@ ARS - Corresponding author Published 29 April 2009 Received 4 July 2008 .__ _r z-__n - . rz . IA I IOZ I-7I-A IŨA-Ĩ - zzrz Accepted 27 November 2008 Journal of Medical Case Reports 2009 3 6656 doi 1752-1947-3-6656 r This article is available from http jmedicalcasereports article view 3 4 6656 2009 El-Sawi and Shahein licensee Cases Network Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License http licenses by which permits unrestricted use distribution and reproduction in any medium provided the original work is properly cited. 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. Introduction Medullary sponge kidney MSK is a rare .