LOCALIZED MEDULLARY CYSTIC DISEASE OF THE KIDNEY: SPONGE KIDNEY.
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Sponge kidney is rare clinical and pathological entity, incidentally found in 0.4--1% of all excretory urographies. In the advanced stage of the disease, distal tubules are affected and renal-tubular acidosis, change of urinary laminar flow and Ca2+ wasting syndrome result in frequent formation of Ca-oxalate stones. Alkali therapy is investigated on the excretion of Na+, K+ and Ca2+ and compared to furosemide administration.
Medullary sponge kidney (MSK) is a benign asymptomatic developmental anomaly of the kidney mostly seen in adult females. Typical for this morphological abnormality is dilation of the collecting ducts. Intravenosus pyelogram shows accumulation of contrast in dilated ducts giving to the papillae the appearance of a bouquet flowers, characteristic for MSK. Urinary tract infections, nephrolithiasis, hematuria and hyperkalciuria are the common complications of the kidney sponge. We present a case of a 29-year-old female who suffers from recurrent urinary tract infection, nephrolithiasis and distal tubular acidosis. This kind of tubular acidosis is specific for kidney sponge clinical picture.
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Medullary sponge kidney is a benign asymptomatic developmental anomaly of the kidney mostly seen in adult females. Presentation in childhood is uncommon. Urinary tract infection, nephrolithiasis, hematuria and hypercalciuria are the common complications. We report a eleven-year-old female child who presented with recurrent urinary tract infection and nephrolithiasis and was found to have bilateral medullary sponge kidney.
"Medullary sponge kidney" applies to pathologically dilated collecting tubules within one or more renal pyramids of one or both kidneys, almost always diagnosed radiographically, of uncertain etiology, and presenting a clinical spectrum varying from an asymptomatic, incidental finding to severely complicating calcareous-infective disease, renal insufficiency, and death. Recognition of the characteristic urographic pattern affords the patient presenting clinically with hematuria, ureteral colic, urinary tract infection, or nephrocalcinosis a prompt diagnosis with a frequently benign prognosis, and usually averts more extensive or invasive investigations.
Medullary sponge kidney is described and discussed with special reference to the radiological picture; its status among cystic diseases of the kidney and its differential diagnosis are examined in detail, as are its relations with nephrocalcinosis and distal tubular acidosis of the kidney. X-ray of numerous cases are given.
A case of simultaneous adult polycystic kidney disease and medullary sponge kidney is reported. Such an occurrence is rare but suggests that these two conditions share a common pathogenesis.
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A 22-year-old woman with hemoglobin SC who was hematologically asymptomatic, developed gross hematuria associated with urinary tract infection, without any urological antecedents. Investigations revealed a unilateral hematuria due to papillary necrosis on the left kidney. Medullary sponge kidney was also discovered by radiologic investigations. Papillary cysts could play a role in the occurrence of papillary necrosis.
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The prevalence of medullary sponge kidney in patients with nephrolithiasis and the issue of whether or not medullary sponge kidney has a role in the pathogenesis of renal stones are controversial. We studied the excretory urograms of 280 patients with nephrolithiasis and 280 patients without either nephrolithiasis or a history of renal stones to determine the frequencies of medullary sponge kidney in the two groups. The criterion for the diagnosis of medullary sponge kidney was the presence of a minimum of three linear or round collections of contrast material within one renal papilla. In the patients with nephrolithiasis, we also looked for biochemical evidence of metabolic causes of renal stones. The frequency of medullary sponge kidney was 12% in patients with nephrolithiasis compared with 1% in patients without nephrolithiasis. The statistical difference was highly significant (chi square = 27.1; p less than .001). Metabolic disorders accounting for the lithiasis were detected in 93% of the patients with stones without medullary sponge kidney. Such evidence was present in 60% of patients with stones and medullary sponge kidney. The statistical difference was significant (chi square = 25.8; p less than .001). Our results suggest that medullary sponge kidney is a cause of nephrolithiasis.
A family is presented in which four and possibly five members of a sibship of seven are affected with polycystic kidney with congenital hepatic fibrosis. The excretory urogram in this disease may be indistinguishable from that of medullary sponge kidneys. Therefore, it is suggested that family studies be undertaken when a diagnosis of medullary sponge kidney is made.
Medullary sponge kidney is reported in six children aged 2-18 years. One child was asymptomatic; the others had hematuria or a urine-concentrating defect. Renal function and size were otherwise normal, as was liver function. The diagnosis was made at excretory urography according to criteria established in adults. Sonography revealed hyperechogenic pyramids, at first at the periphery, later generalized. Computed tomography proved this to be calcium. Medullary sponge kidney is rare but exists in children. Sonography is very sensitive to the pyramidal nephrocalcinosis that complicates this disease and explains the frequent presenting symptom of hematuria in these children.
Of unknown pathogenesis, sponge kidney (SK) is variably associated with nephrocalcinosis, stones, nephronic tubule dysfunctions and precalyceal duct cysts. Amongst 72 unrelated renal SK patients with renal stone disease, we detected one with unilateral bifid renal pelvis and six with unilateral small kidneys (longitudinal diameter difference >15%). Secondary causes of small kidney were excluded. Of the seven cases, four had reduced renal function (67 vs 7% in the entire cohort), and three developed hyperparathyroidism during follow-up (43 vs 4%). The pathogenesis of SK ought to explain why anatomical structures of different embryological origin are involved (the precalyceal and collecting ducts and the nephron) and why there is frequent association with hyperparathyroidism. In embryogenesis, the metanephric blastema synthesizes the chemotactic glial-derived neurotrophic factor (GDNF) to prompt the ureteric bud to branch off from Wolff's mesonephric duct, and to approach and invade the blastema. The bud's tip expresses the GDNF receptor (RET). RET-GDNF binding is crucial not only for the correct formation of ureters and collecting ducts (both of Wolffian origin), but also for nephrogenesis. We advance the hypothesis that SK results from a disruption in the ureteric bud-metanephric blastema interface, possibly due to one or more mutations or polymorphisms of RET or GDNF genes. This would explain: the concurrent alterations in precalyceal ducts and the functional defects in the nephron, the occasional association with size and the functional asymmetry between the two kidneys, some degree of renal dysplasia causing the reduction in the glomerular filtration rate and (given the role of RET in parathyroid cell proliferation) the association with hyperparathyroidism.
Medullary sponge kidney (MSK), parathyroid adenoma, renal cell carcinoma, and renal-leak hypercalciuria coincided in 1 female patient. Renal-leak hypercalciuria was not corrected by removal of a parathyroid adenoma. Since the patient had renal tubular acidosis (RTA), alkali treatment was conducted and resulted in the correction of hypercalciuria. Renal cell carcinoma eventually developed and MSK was confirmed histologically. This case suggests that MSK and primary hyperparathyroidism occurred independently.
Thirteen patients with medullary sponge kidney underwent a short ammonium chloride loading test to investigate their renal acidification capacity. All but 1 presented with a history of recurrent renal calculi and showed bilateral widespread renal medullary calcification on X-ray examination. Nine patients had some form of renal acidification defect; 8 had the distal type of renal tubular acidosis, 2 the complete and 6 the incomplete form. One patient had proximal renal tubular acidosis. These findings, which suggest that renal acidification defects play an important role in the pathogenesis of renal calculi in medullary sponge kidney, have considerable therapeutic implications.