Medullary Sponge Kidney Clinical Presentation
- Author: Amit K Ghosh, MD, DM, FACP; Chief Editor: Vecihi Batuman, MD, FACP, FASN more...
History
Patients with medullary sponge kidney often are asymptomatic. Not infrequently, the diagnosis is made during radiologic investigations, including abdominal radiography and excretory pyelography, performed for other clinical situations.[5, 6]
Hematuria is frequent, and gross hematuria may be present in 10-20% of cases. Gross hematuria usually results from pelvic obstruction due to stones. Microscopic hematuria may be present with or without UTI. (See Table 1, below.)
Renal stones also result in UTI, urinary obstruction, and nephrocalcinosis. The stones in medullary sponge kidney are usually composed of calcium phosphate (apatite) and calcium oxalate. (See Table 1, below.)
UTI is common in medullary sponge kidney, with and without nephrolithiasis. Sterile pyuria also is common. Patients with medullary sponge kidney have more UTIs than other patients with nephrolithiasis, and the incidence of urinary infection is higher in women than in men. (See Table 1, below.)
Recurrent nephrolithiasis is a major complication of medullary sponge kidney. The most common presenting symptom of this complication is renal colic, often accompanied by hematuria. (See Table 1, below.)
Table 1. Clinical Features of Medullary Sponge Kidney and Etiologic Correlation (Open Table in a new window)
| Frequency | Clinical Findings | Etiology |
| Common* | Nephrolithiasis (calcium oxalate, calcium apatite) | Hypercalciuria Increased oxalate concentration Tubular acidification defects Hypocitraturia |
| Hematuria (gross 10-20%, microscopic) | Acute pelvic obstruction UTI, renal stones, or absence of both | |
| UTI | Sterile pyuria common even in absence of stones Presence of renal stones | |
| Rare | Chronic kidney disease | Repeated urinary obstruction Repeated pyelonephritis due to urease-producing organisms (Proteus) |
| *Asymptomatic | ||
Medullary sponge kidney can occur in conjunction with other congenital abnormalities, as follows:
- Anodontia
- Autosomal dominant polycystic kidney
- Beckwith-Wiedemann syndrome
- Caroli syndrome
- Congenital hemihypertrophy - As many as 10% of patients with hemihypertrophy have medullary sponge kidney, and as many as 25% of patients with medullary sponge kidney have hemihypertrophy
- Congenital pyloric stenosis
- Distal renal tubular acidosis
- Ehlers-Danlos syndrome
- Horseshoe kidney
- Marfan syndrome
- Parathyroid adenomas
- Renal artery stenosis
- Ureteral duplication
When associated with medullary sponge kidney, Beckwith-Wiedemann syndrome (high birth weight, macroglossia, omphalocele, visceromegaly, mental retardation, cysts in the adrenal cortex, enlarged kidneys, medullary sponge kidney, and hemihypertrophy) has a high tumor rate, especially Wilms tumor, adrenal gland cancer, and hepatoblastoma.
If any suggestion of a history of medullary sponge kidney in other family members exists, further investigations may be indicated to unravel the genetic pattern of transmission.
Physical Examination
The following may be encountered on physical examination:
- No physical findings are usually present except for hematuria
- Renal colic may occur
- Costovertebral angle tenderness occurs in cases of pyelonephritis or ureteral obstruction by a calculus
- Hemihypertrophy is present in 25% of cases
- Other signs of associated congenital disorders may be present (as listed in the History section)
Fick GM, Gabow PA. Hereditary and acquired cystic disease of the kidney. Kidney Int. Oct 1994;46(4):951-64. [Medline].
Gambaro G, Feltrin GP, Lupo A, et al. Medullary sponge kidney (Lenarduzzi-Cacchi-Ricci disease): a Padua Medical School discovery in the 1930s. Kidney Int. Feb 2006;69(4):663-70. [Medline].
Yagisawa T, Kobayashi C, Hayashi T, et al. Contributory metabolic factors in the development of nephrolithiasis in patients with medullary sponge kidney. Am J Kidney Dis. Jun 2001;37(6):1140-3. [Medline].
Forster JA, Taylor J, Browning AJ, et al. A review of the natural progression of medullary sponge kidney and a novel grading system based on intravenous urography findings. Urol Int. 2007;78(3):264-9. [Medline].
Levine E, Hartman DS, Meilstrup JW, et al. Current concepts and controversies in imaging of renal cystic diseases. Urol Clin North Am. Aug 1997;24(3):523-43. [Medline].
Palubinskas AJ. Renal pyramid structure opacification in excretory urography and its relation to medullary sponge kidney. Radiology. Dec 1963;81:963-70. [Medline].
Higashihara E, Nutahara K, Tago K, et al. Medullary sponge kidney and renal acidification defect. Kidney Int. Feb 1984;25(2):453-9. [Medline].
Fabris A, Lupo A, Bernich P, et al. Long-term treatment with potassium citrate and renal stones in medullary sponge kidney. Clin J Am Soc Nephrol. Sep 2010;5(9):1663-8. [Medline].
Lang EK, Macchia RJ, Thomas R, et al. Improved detection of renal pathologic features on multiphasic helical CT compared with IVU in patients presenting with microscopic hematuria. Urology. Mar 2003;61(3):528-32. [Medline].
McPhail EF, Gettman MT, Patterson DE, Rangel LJ, Krambeck AE. Nephrolithiasis in Medullary Sponge Kidney: Evaluation of Clinical and Metabolic Features. Urology. Oct 17 2011;[Medline].
| Frequency | Clinical Findings | Etiology |
| Common* | Nephrolithiasis (calcium oxalate, calcium apatite) | Hypercalciuria Increased oxalate concentration Tubular acidification defects Hypocitraturia |
| Hematuria (gross 10-20%, microscopic) | Acute pelvic obstruction UTI, renal stones, or absence of both | |
| UTI | Sterile pyuria common even in absence of stones Presence of renal stones | |
| Rare | Chronic kidney disease | Repeated urinary obstruction Repeated pyelonephritis due to urease-producing organisms (Proteus) |
| *Asymptomatic | ||
| Radiologic Test | Appearance |
| Plain radiograph | Normal or enlarged kidney Medullary nephrocalcinosis indicated by isolated, single or multiple precaliceal concretions or clusters of grapelike calcifications |
| Excretory urogram* | Papillary blush Faint pyramidal striation Papillary streaking or brushlike appearance Precaliceal tubular dilatation filled with contrast Papillary blush and multiple precaliceal dilatation Bouquet of flowers |
| CT scan | Papillary calcification Hyperdense papilla Ectasia of precaliceal tubules |
| *Findings limited to medullary pyramids | |
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