Medullary Sponge Kidney

Disease Overview

Medullary Sponge Kidney is a rare disorder characterized by the formation of cystic malformations in the collecting ducts and the tubular structures within the kidneys (tubules) that collect urine. One or both kidneys may be affected. The initial symptoms of this disorder may include blood in the urine (hematuria), calcium stone formation in the kidneys (nephrolithiasis) or infection. The exact cause of Medullary Sponge Kidney is not known.

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Synonyms

• Cacchi-Ricci Disease
• Cystic Dilatation of Renal Collecting Tubes
• Precalyceal Canalicular Ectasia
• Sponge Kidney
• Tubular Ectasia

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Signs & Symptoms

The first symptoms of Medullary Sponge Kidney typically blood in the urine, stone formation or signs of a urinary infection such as excessive urination (polyuria) and/or burning and pain while urinating. In some affected individuals, calcium stones may form in the kidneys (nephrolithiasis). These stones can cause low back pain in the area of the kidneys (renal colic) and pain in the lower back and lower abdomen. A prominent feature of Medullary Sponge Kidney is the excretion of small stones with the urinary flow. The passage of these stones can be profoundly painful. In a small number of cases, repeated urinary infections and damage to the kidneys may occur if stones become sufficiently large enough to block the flow of urine to the bladder (renal obstruction).

The most common complication of Medullary Sponge Kidney involves the loss of the kidneys’ capacity to concentrate waste products in the urine (filtration). This is due to the abnormal widening (dilatation) of the collecting tubes deep within the kidneys. Impaired filtration by the kidneys can result in the excessive accumulation of acidic waste products in the blood and body fluids (metabolic acidosis). Rare complications of Medullary Sponge Kidney may include severe damage to the kidneys (i.e., renal tubular acidosis) and kidney failure (i.e., end-stage renal disease).

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Causes

The exact cause of Medullary Sponge Kidney is not known and most cases occur sporadically for no apparent reason. Some cases are thought to run in families (familial) and may be inherited as an autosomal dominant genetic trait. However, this inheritance pattern has not been proven. Some studies have suggested there may be a a possible relationship between overactivity of the parathyroid gland (Hyperparathyroidism) and Medullary Sponge Kidney.

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Affected populations

Medullary Sponge Kidney is a rare disorder that affects slightly more women than men. It is thought to occur in 1 in 1,000 to 5,000 people in the United States. Although the symptoms of Medullary Sponge Kidney may begin at any age, they usually develop during adolescence or in adults between the ages of 30 and 50 years. Approximately 13 percent of all people who develop kidney stones are eventually diagnosed with Medullary Sponge Kidney. Medullary Sponge Kidney may also develop in people with Beckwith-Wiedemann Syndrome. (For more information on Beckwith-Wiedemann Syndrome, see the related disorders section of this report.)

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Disorders with Similar Symptoms

Related Disorders Symptoms of the following disorders can be similar to those of Medullary Sponge Kidney. Comparisons may be useful for a differential diagnosis:

Medullary Sponge Kidney is associated with several developmental and genetic disorders including the following conditions. Comparisons may be useful for a differential diagnosis.

Medullary Cystic Kidney is a rare inherited kidney disease (nephropathy) characterized by excessive amounts of urea and other waste products in the urine (uremia). Impairment of kidney function occurs due to the development of numerous cysts deep within the kidneys (medulla). In most cases, the first symptoms of this disorder appear during childhood or adolescence (Familial Juvenile Nephronophthisis). People with Medullary Cystic Kidney Disease typically pass large volumes of urine (polyuria) that contain abnormally high levels of salt (sodium-wasting). Other symptoms may include excessive thirst (polydipsia), general weakness, lack of normal color in the face (pallor), and the inability to control bladder function (incontinence), especially during the night. (For more information on this disorder, choose “Medullary Cystic” as your search term in the Rare Disease Database.)

Polycystic Kidney Disease is an inherited disorder characterized by the presence of cysts in both kidneys (bilateral renal disease). Progressive enlargement of these cysts causes the loss of normal kidney function and an abnormal increase in the vascular blood pressure around the kidneys (renal hypertension). There are infantile and adult forms of Polycystic Kidney Disease. Symptoms may include abdominal enlargement, back pain, weight loss, and/or unusually low levels of fluid in the body (dehydration). Some people with this disorder may also have liver problems and abnormal enlargement of the spleen (splenomegaly). (For more information on this disorder, choose “Polycystic Kidney” as your search term in the Rare Disease Database.)

Beckwith-Wiedemann Syndrome is a rare congenital disorder characterized by an abnormally enlarged tongue (macroglossia), an opening in the abdominal wall through which the organs of the abdomen may protrude (omphalocele), excessive size and height (macrosomia), and unusual ear creases. Although some children with this disorder have few or no symptoms, a variety of symptoms are possible. Other symptoms may include abnormally low blood sugar (hypoglycemia), mental retardation, an abnormal increase in the number of red blood cells (polycythemia), and an unusually small head (microcephaly). Some children with Beckwith-Wiedemann Syndrome may develop Medullary Sponge Kidneys and/or malignant tumors of the kidneys. (For more information on this disorder, choose “Beckwith-Wiedemann” as your search term in the Rare Disease Database.)

Caroli Disease is a rare inherited disorder characterized by abnormal widening (dilatation) of the ducts that carry bile from the liver (intrahepatic bile ducts). According to the medical literature, there are two forms of Caroli Disease. In most cases of the isolated or simple form of Caroli Disease, affected individuals experience recurrent episodes of inflammation of the bile ducts (cholangitis) and unusual accumulation of pus (abscesses) on the liver. A second form of Caroli Disease is associated with abnormal formation of bands of fibrous tissue in the portal area of the liver (congenital hepatic fibrosis). This form of Caroli Disease is also often associated with high blood pressure of the portal vein (portal hypertension), polycystic kidney disease, and, in severe cases, liver failure. Caroli Disease is thought to be inherited as either an autosomal dominant or recessive genetic trait. (For more information on this disorder, choose “Caroli Disease” as your search in the Rare Disease Database.)

Ehlers-Danlos syndrome (EDS) is a group of hereditary connective tissue disorders characterized by defects of the major structural protein in the body (collagen). Collagen, a tough, fibrous protein, plays an essential role in holding together, strengthening, and providing elasticity to bodily cells and tissues. Due to defects of collagen, primary EDS symptoms and findings include abnormally flexible, loose joints (articular hypermobility) that may easily become dislocated; unusually loose, thin, stretchy (elastic) skin; and excessive fragility of the skin, blood vessels, and other bodily tissues and membranes. (For more information on this disorder, choose “Ehlers-Danlos Syndrome” as your search term in the Rare Disease Database.)

Marfan syndrome is an inherited disorder that affects the connective tissue of the heart and blood vessels (cardiovascular system). The musculoskeletal system (ligaments and muscles) and ocular system (eyes) are also affected. Major symptoms also include unusual height, large hands and feet, and involvement of the lungs. (For more information on this disorder, choose “Marfan Syndrome” as your search term in the Rare Disease Database.)

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Standard Therapies

The diagnosis of Medullary Sponge Kidney Disease may be confirmed by a thorough clinical evaluation and specialized X-ray studies (i.e., intravenous urography) that reveal the presence of abnormal widening (dilatation) or stretching of collecting ducts, cyst formations or kidney stones. CT scan (computerized tomography) is another imaging study that is effective in revealing calcifications that may later form kidney stones. In some affected individuals, urinary filtration rates (glomerular) may be measured and found to be reduced.

The kidney stones associated with Medullary Sponge Kidney are composed of calcium oxalate, calcium phosphate, and other calcium salts (urolithiasis). If normal levels of calcium are excreted, affected individuals may be given oral phosphate therapy. Individuals with Medullary Sponge Kidney should take sufficient fluids in order to excrete about 2 liters of urine each day. Those people with Medullary Sponge Kidney who have too much calcium in their urine (hypercalciuria) may benefit from long-term therapy with thiazide diuretics as well as a high fluid intake.

In some people with Medullary Sponge Kidney, a low calcium diet may help t. prevent the formation of kidney stones and thereby reduce the complications of urinary obstruction. Patients should be evaluated at least on a yearly basis, including routine urinalysis and urine cultures. Many patients with Medullary Sponge Kidney have recurrent urinary tract infections and may require antibiotic drugs to help prevent future infections (prophylaxis).

Stones in the collecting system may be treated with electromagnetic shock waves (extracorporeal shock wave lithotripsy [ESWL]). During this procedure, the patient is placed in a large tub of water and shock waves (high energy) are delivered by a special machine (ellipsoid reflector) directly to the area of the kidney stones. The stones are broken into small pieces and excreted with the urine. It has not been determined if ESWL is beneficial in treating stones in the kidney tubules.

Genetic counseling may be of benefit for people with Medullary Sponge Kidney if the disease appears in other family members. In rare cases of kidney failure, renal dialysis may be required. Other treatment is symptomatic and supportive.

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Clinical Trials and Studies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com

The orphan drug calcium acetate is being investigated for the treatment of excessive levels of phosphate in the blood (hyperphosphatemia) associated with end-stage renal disease (ESRD), which can occur as a rare complication in some people with Medullary Sponge Kidney. More studies are needed to determine the long-term safety and effectiveness of this drug for the treatment of renal disease. For more information on this drug, contact the manufacturer:

Braintree Laboratories, Inc.

P.O. Box 361

60 Columbian St.

Braintree, MA 02184

781-843-2202

800-874-6756

https://www.braintreelabs.com/

Another orphan drug, calcium carbonate, is also being investigated for the treatment of hyperphosphatemia associated with end-stage renal disease (ESRD). More studies are needed to determine the long-term safety and effectiveness of this drug for the treatment of renal disease that can occur in association with Medullary Sponge Kidney. For more information, contact the manufacturer:

R&D Laboratories

4094 Glencoe Ave.

Marine del Ray, CA 90292

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References

TEXTBOOKS

Lewis RD and Warady BA. Medullary Spponge Kidney. In: The NORD Guide to Rare Disorders, Philadelphia: Lippincott, Williams and Wilkins, 2003:694-695.

JOURNAL ARTICLES

Ginalski JM, et al. Medullary sponge kidney on axial computed tomography: Comparison with excretory urography. Eur J Radiol. 1991;12(2):104-7.

Vandeursen H, et al. Prophylactic role of extracorporeal shock wave lithotripsy in the management of nephrocalcinosis. Br J Urol. 1993;71(4):392-95.

Chen WC, et al. Experience using extracorporeal shock-wave lithotripsy to treat urinary calculi in problem kidneys. Urol Int. 1993;51(1):32-38.

Ginalski JM, et al. Does medullary sponge kidney cause nephrolithiasis? Am J Roentgenol. 1990;155(2):299-302.

Alvarado L, Walling AD. Medullary sponge kidney. Kansas Med. 1996;97:30-32.

Grantham JJ, Nair V, Winklhofer F. Cystic diseases of the kidney. In: Brenner BM, ed. Brenner and Rector’s the Kidney, 6th ed. Philadelphia: WB Saunders, 2000:1717-1719.

Indridason, et al. Medullary sponge kidney and congenital hemihypertrophy. J Am Soc Nephrol. 1996:8:1124-1130.

Nakada SY, Erturk E, Monaghan J, et al. Role of extracorporeal shock-wave lithotripsy in treatment of urolithiasis in patients with medullary sponge kidney. Urology. 1993;41:331-333.

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Programs & Resources

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