Abstract
Background: Medullary sponge kidney (MSK) is a disturbance of renal development characterized by cystic dilation and diffuse precalyceal duct ectasia. The disease affects both genders in equal proportions and is generally diagnosed in adulthood, as a result of recurrent calcium nephrolithiasis and nephrocalcinosis. The most frequently encountered manifestations being renal colic, microscopic or macroscopic hematuria, and fever. The intravenous pyelogram is standard for diagnosis and metabolic workup is required to identify the underlying cause. The main goal of treatment is to prevent recurrence and disease progression. Though considered a benign condition, a nephrectomy may often be required in patients presenting late with irreversible complications and end-stage renal disease. Aim: To highlight and discuss the presentation and management of a rare case of nephrocalcinosis and nephrolithiasis secondary to the medullary sponge kidney. Case presentation: We report herein the case of a 56-year-old male with long-standing hematuria in whom a diagnosis of medullary sponge kidney disease was made and he underwent a left total nephrectomy. The postoperative course was uneventful. Conclusion: Nephrocalcinosis and nephrolithiasis are complications of MSK and can result in irreversible renal damage. A high index of suspicion is necessary for patients presenting with renal colic, recurrent urinary tract infections, or hematuria for prompt diagnosis and management.
Highlights
Medullary sponge kidney (MSK) or Cacchi-Ricci disease represents a disturbance in renal development characterized by cystic dilation and diffuse precalyceal duct ectasia
It has been claimed that MSK results from the coexistence of multiple tubular function defects in different nephron segments which points to the abnormal development of the tubular epithelium, probably as a consequence of an abnormal “ureteric bud–metanephric mesenchyme”, or receptor tyrosine kinase (RET)/glial cell line-derived neurotrophic factor (GDNF) interface [2]
Theories behind the etiology of stone formation in MSK include urinary stasis in dilated tubules leading to increased crystal precipitation, renal leak, hypercalciuria resulting from impaired tubular function, and distal renal tubular acidosis and associated hypocitraturia resulting from impaired tubular function [4]
Summary
Medullary sponge kidney (MSK) or Cacchi-Ricci disease represents a disturbance in renal development characterized by cystic dilation and diffuse precalyceal duct ectasia. These dilations are between 1 and 7 mm in size, frequently containing small calculi, and the communication between the respective ducts and calyces may be stenotic [1]. Medullary sponge kidney (MSK) is a disturbance of renal development characterized by cystic dilation and diffuse precalyceal duct ectasia. The disease affects both genders in equal proportions and is generally diagnosed in adulthood, as a result of recurrent calcium nephrolithiasis and nephrocalcinosis. A high index of suspicion is necessary for patients presenting with renal colic, recurrent urinary tract infections, or hematuria for prompt diagnosis and management
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