Medullary Sponge Kidney Clinical Presentation

Updated: Aug 11, 2020
  • Author: Amit K Ghosh, MD, DM, FACP, MBA; Chief Editor: Vecihi Batuman, MD, FASN  more...
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Presentation

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. [6, 7]

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 urinary tract infection (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.

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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)

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