Medullary sponge kidney

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Medullary sponge kidney
Other namesCacchi–Ricci disease
N00728 H-1- medullary sponge kidney.JPG
Medullary sponge as seen on an intravenous pyelogram
Specialty Medical genetics, nephrology   OOjs UI icon edit-ltr-progressive.svg

Medullary sponge kidney is a congenital disorder of the kidneys characterized by cystic dilatation of the collecting tubules in one or both kidneys. Individuals with medullary sponge kidney are at increased risk for kidney stones and urinary tract infection (UTI). Patients with MSK typically pass twice as many stones per year as do other stone formers without MSK. While having a low morbidity rate, as many as 10% of patients with MSK have an increased risk of morbidity associated with frequent stones and UTIs. While many patients report increased chronic kidney pain, the source of the pain, when a UTI or blockage is not present, is unclear at this time. Renal colic (flank and back pain) is present in 55% of patients. Women with MSK experience more stones, UTIs, and complications than men. MSK was previously believed not to be hereditary but there is more evidence coming forth that may indicate otherwise. [1] [2]

Contents

Signs and symptoms

Most cases are asymptomatic or are discovered during an investigation of blood in the urine. Symptomatic patients typically present as middle-aged adults with renal colic, kidney stones, nephrocalcinosis and/or recurrent urinary tract infections; however, MSK also may affect children very rarely. In addition to the typical clinical phenotype of recurrent stone disease, other clinical profiles have now been recognized, that is, an indolent, almost asymptomatic MSK, and a rare form characterized by intractable pain. [3]

Complications

Complications associated with medullary sponge kidney include the following:

Cause

In recent studies, insight has been obtained on the genetic basis of this disease, supporting the hypothesis that MSK is due to a disruption at the 'ureteric bud-metanephric mesenchyme' interface. This explains why so many tubular defects coexist in this disease, and particularly a distal tubular acidification defect of which the highly prevalent metabolic bone disease is one very important consequence. In addition to the typical clinical phenotype of recurrent stone disease, other clinical profiles have now been recognized, that is, an indolent, almost asymptomatic MSK, and a rare form characterized by intractable, excruciating pain. [5] It was previously believed that most cases of medullary sponge kidney were sporadic; however, recent studies show familial clustering of MSK is common and has an autosomal dominant inheritance, a reduced penetrance, and variable expressivity. [6] [7] Other theories suggest that dilatation of a collecting duct may occur, caused by occlusion by uric acid during fetal life or resulting from tubular obstruction due to calcium oxalate calculi secondary to infantile hypercalciuria. [4]

A rare, autosomal recessive form is associated with Caroli disease. [4]

Diagnosis

Classically, MSK is seen as hyperechoic papillae with clusters of small stones on ultrasound examination of the kidney or with an abdominal x-ray. The irregular (ectatic) collecting ducts are often seen in MSK, which are sometimes described as having a "paintbrush-like" appearance, are best seen on intravenous urography. However, IV urography has been largely replaced by contrast-enhanced, high-resolution helical CT with digital reconstruction. [8]

Treatment

Often, aggressive treatment is unnecessary for people with MSK disease that does not cause any symptoms (asymptomatic). [8] In such cases, treatment may consist of maintaining adequate fluid intake, with the goal of decreasing the risk of developing kidney stones (nephrolithiasis). [8] Cases of recurrent kidney stone formation may warrant evaluation for possible underlying metabolic abnormalities. [8]

In patients with low levels of citrate in the urine (hypocitraturia) and incomplete distal renal tubular acidosis, treatment with potassium citrate helps prevent the formation of new kidney stones. [8] Urinary tract infections, when they occur, should also be treated. [8]

Patients with the more rare form of MSK marked by chronic pain typically require pain management. Non-obstructing stones in MSK can be associated with significant and chronic pain even if they're not passing. It is not certain what causes this pain, but researchers have proposed that the small numerous stones seen in MSK may cause obstruction of the small tubules and collecting ducts in the kidney. This pain can be constant, can often be debilitating and treatment is challenging. Narcotic medication, even in large quantities, is sometimes not adequate. Some success with pain control has been reported using laser lithotripsy (called "ureteroscopic laser papillotomy"). [9]

Epidemiology

In the general population, the frequency of medullary sponge kidney disease is reported to be 0.02–0.005%; that is, 1 in 5000 to 1 in 20,000. The frequency of medullary sponge kidney has been reported by various authors to be 12 21% in patients with kidney stones. [10] The disease is bilateral in 70% of cases.[ citation needed ]

Related Research Articles

Kidney Vertebrate organ that filters blood and produces urine

The kidneys are two reddish-brown bean-shaped organs found in vertebrates. They are located on the left and right in the retroperitoneal space, and in adult humans are about 12 centimetres in length. They receive blood from the paired renal arteries; blood exits into the paired renal veins. Each kidney is attached to a ureter, a tube that carries excreted urine to the bladder. The word “renal” is an adjective meaning “relating to the kidneys”, and its roots are French or late Latin. Whereas according to some opinions, "renal" should be replaced with "kidney" in scientific writings such as "kidney artery", other experts have advocated preserving the use of renal as appropriate including in "renal artery".

Urinary tract infection A type of infection

A urinary tract infection (UTI) is an infection that affects part of the urinary tract. When it affects the lower urinary tract it is known as a bladder infection (cystitis) and when it affects the upper urinary tract it is known as a kidney infection (pyelonephritis). Symptoms from a lower urinary tract infection include pain with urination, frequent urination, and feeling the need to urinate despite having an empty bladder. Symptoms of a kidney infection include fever and flank pain usually in addition to the symptoms of a lower UTI. Rarely the urine may appear bloody. In the very old and the very young, symptoms may be vague or non-specific.

Kidney stone disease Formation of mineral stones in the urinary tract

Kidney stone disease, also known as nephrolithiasis or urolithiasis, is when a solid piece of material develops in the urinary tract. Kidney stones typically form in the kidney and leave the body in the urine stream. A small stone may pass without causing symptoms. If a stone grows to more than 5 millimeters (0.2 in), it can cause blockage of the ureter, resulting in severe pain in the lower back or abdomen. A stone may also result in blood in the urine, vomiting, or painful urination. About half of people who have had a kidney stone will have another within ten years.

Collecting duct system Kidney system

The collecting duct system of the kidney consists of a series of tubules and ducts that physically connect nephrons to a minor calyx or directly to the renal pelvis. The collecting duct system is the last part of nephron and participates in electrolyte and fluid balance through reabsorption and excretion, processes regulated by the hormones aldosterone and vasopressin.

Hematuria Medical condition

Hematuria or haematuria is defined as the presence of blood or red blood cells in the urine. An anatomical framework is helpful in developing a comprehensive differential diagnosis. Blood or red blood cells can enter and mix with urine at multiple anatomical sites. These include the urinary system, female reproductive system, and integumentary system.

Cystinuria Amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder

Cystinuria is an inherited autosomal recessive disease characterized by high concentrations of the amino acid cystine in the urine, leading to the formation of cystine stones in the kidneys, ureters, and bladder. It is a type of aminoaciduria. "Cystine", not "cysteine," is implicated in this disease; the former is a dimer of the latter.

Pyelonephritis Medical condition

Pyelonephritis is inflammation of the kidney, typically due to a bacterial infection. Symptoms most often include fever and flank tenderness. Other symptoms may include nausea, burning with urination, and frequent urination. Complications may include pus around the kidney, sepsis, or kidney failure.

Hydronephrosis describes hydrostatic dilation of the renal pelvis and calyces as a result of obstruction to urine flow downstream. Alternatively, hydroureter describes the dilation of the ureter, and hydronephroureter describes the dilation of the entire upper urinary tract.

Renal tubular acidosis Medical condition

Renal tubular acidosis (RTA) is a medical condition that involves an accumulation of acid in the body due to a failure of the kidneys to appropriately acidify the urine. In renal physiology, when blood is filtered by the kidney, the filtrate passes through the tubules of the nephron, allowing for exchange of salts, acid equivalents, and other solutes before it drains into the bladder as urine. The metabolic acidosis that results from RTA may be caused either by insufficient secretion of hydrogen ions into the latter portions of the nephron or by failure to reabsorb sufficient bicarbonate ions from the filtrate in the early portion of the nephron. Although a metabolic acidosis also occurs in those with chronic kidney disease, the term RTA is reserved for individuals with poor urinary acidification in otherwise well-functioning kidneys. Several different types of RTA exist, which all have different syndromes and different causes. RTA is usually an incidental finding based on routine blood draws that show abnormal results. Clinically, patients may present with vague symptoms such as dehydration, mental status changes, or delayed growth in adolescents.

Vesicoureteral reflux Medical condition

Vesicoureteral reflux (VUR), also known as vesicoureteric reflux, is a condition in which urine flows retrograde, or backward, from the bladder into one or both ureters and then to the renal calyx or kidneys. Urine normally travels in one direction from the kidneys to the bladder via the ureters, with a 1-way valve at the vesicoureteral (ureteral-bladder) junction preventing backflow. The valve is formed by oblique tunneling of the distal ureter through the wall of the bladder, creating a short length of ureter (1–2 cm) that can be compressed as the bladder fills. Reflux occurs if the ureter enters the bladder without sufficient tunneling, i.e., too "end-on".

Cystic kidney disease Medical condition

Cystic kidney disease refers to a wide range of hereditary, developmental, and acquired conditions and with the inclusion of neoplasms with cystic changes, over 40 classifications and subtypes have been identified. Depending on the disease classification, the presentation may be at birth, or much later into adult life. Cystic disease may involve one or both kidneys and may, or may not, occur in the presence of other anomalies. A higher incidence of is found in males and prevalence increases with age. Renal cysts have been reported in more than 50% of patients over the age of 50. Typically, cysts grow up to 2.88 mm annually and may cause related pain and/or hemorrhage.

Pyelogram is a form of imaging of the renal pelvis and ureter.

Dents disease Medical condition

Dent's disease is a rare X-linked recessive inherited condition that affects the proximal renal tubules of the kidney. It is one cause of Fanconi syndrome, and is characterized by tubular proteinuria, excess calcium in the urine, formation of calcium kidney stones, nephrocalcinosis, and chronic kidney failure.

Nephrocalcinosis, once known as Albright's calcinosis after Fuller Albright, is a term originally used to describe deposition of calcium salts in the renal parenchyma due to hyperparathyroidism. The term nephrocalcinosis is used to describe the deposition of both calcium oxalate and calcium phosphate. It may cause acute kidney injury. It is now more commonly used to describe diffuse, fine, renal parenchymal calcification in radiology. It is caused by multiple different conditions and is determined progressive kidney dysfunction. These outlines eventually come together to form a dense mass. During its early stages, nephrocalcinosis is visible on x-ray, and appears as a fine granular mottling over the renal outlines. It is most commonly seen as an incidental finding with medullary sponge kidney on an abdominal x-ray. However, it may be severe enough to cause renal tubular acidosis or even end stage kidney disease, due to disruption of the kidney tissue by the deposited calcium.

Reflux nephropathy is kidney damage (nephropathy) due to urine flowing backward (reflux) from the bladder toward the kidneys; the latter is called vesicoureteral reflux (VUR). Longstanding VUR can result in small and scarred kidneys during the first five years of life in affected children. The end results of reflux nephropathy can include high blood pressure, excessive protein loss in the urine, and eventually kidney failure.

Loin pain hematuria syndrome Medical condition

Loin pain hematuria syndrome (LPHS) is the combination of debilitating unilateral or bilateral flank pain and microscopic or macroscopic amounts of blood in the urine that is otherwise unexplained.

Urologic diseases or conditions include urinary tract infections, kidney stones, bladder control problems, and prostate problems, among others. Some urologic conditions do not affect a person for that long and some are lifetime conditions. Kidney diseases are normally investigated and treated by nephrologists, while the specialty of urology deals with problems in the other organs. Gynecologists may deal with problems of incontinence in women.

Bladder outlet obstruction occurs when urine is unable to flow from the kidneys through the ureters and out of the bladder through the urethra. Decreased flow of urine leads to swelling of the urinary tract, called hydronephrosis. This process of decreased flow of urine through the urinary tract can begin as early as during intrauterine life and it prevents normal development of fetal kidneys and fetal urine. Low levels of fetal urine leads to low amniotic fluid levels and incomplete lung maturation. Older children and adults can also experience bladder outlet obstruction; however, this process is usually reversible and isn't associated with as many poor outcomes as in infants with congenital bladder outlet obstruction.

Distal renal tubular acidosis Medical condition

Distal renal tubular acidosis (dRTA) is the classical form of RTA, being the first described. Distal RTA is characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. This failure of acid secretion may be due to a number of causes, and it leads to an inability to acidify the urine to a pH of less than 5.3.

Proximal renal tubular acidosis (pRTA) or type 2 renal tubular acidosis (RTA) is a type of RTA caused by a failure of the proximal tubular cells to reabsorb filtered bicarbonate from the urine, leading to urinary bicarbonate wasting and subsequent acidemia. The distal intercalated cells function normally, so the acidemia is less severe than dRTA and the urine can acidify to a pH of less than 5.3. pRTA also has several causes, and may occasionally be present as a solitary defect, but is usually associated with a more generalised dysfunction of the proximal tubular cells called Fanconi syndrome where there is also phosphaturia, glycosuria, aminoaciduria, uricosuria and tubular proteinuria.

References

  1. "Medullary Sponge Kidney". Archived from the original on 7 August 2011. Retrieved 22 August 2012.CS1 maint: discouraged parameter (link)
  2. Goldfarb DS (2013). "Evidence for inheritance of medullary sponge kidney". Kidney Int. 83 (2): 193–6. doi: 10.1038/ki.2012.417 . PMID   23364586.
  3. Gambaro G, Danza FM, Fabris A (2013). "Medullary Sponge Kidney". Curr Opin Nephrol Hypertens. 22 (4): 421–6. doi:10.1097/MNH.0b013e3283622b86. PMID   23680648.
  4. 1 2 3 4 5 6 7 8 Ghosh, Amit K. "Medullary Sponge Kidney". Medscape Reference. Retrieved 1 January 2013.CS1 maint: discouraged parameter (link)
  5. Gambaro, Giovanni; Danza, Francesco M.; Fabris, Antonia (July 2013). "Medullary sponge kidney". Current Opinion in Nephrology and Hypertension. 22 (4): 421–426. doi:10.1097/MNH.0b013e3283622b86. PMID   23680648.
  6. Fabris, Antonia; Lupo, Antonio; Ferraro, Pietro M; Anglani, Franca; Pei, York; Danza, Francesco M; Gambaro, Giovanni (2013). "Familial clustering of medullary sponge kidney is autosomal dominant with reduced penetrance and variable expressivity". Kidney International. 83 (2): 272–277. doi: 10.1038/ki.2012.378 . PMID   23223172.
  7. Goldfarb, David S (February 2013). "Evidence for inheritance of medullary sponge kidney". Kidney International. 83 (2): 193–196. doi: 10.1038/ki.2012.417 . PMID   23364586.
  8. 1 2 3 4 5 6 Salant DJ]; Gordon CE (2012). "Chapter 284. Polycystic Kidney Disease and Other Inherited Tubular Disorders". Harrison's Principles of Internal Medicine (18th ed.). New York: McGraw-Hill. ISBN   978-0071748896.
  9. "What is Medullary Sponge Kidney?" . Retrieved 21 May 2014.CS1 maint: discouraged parameter (link)
  10. Ginalski, JM; Portmann L; Jaeger P (1990). "Does medullary sponge kidney cause nephrolithiasis?" (PDF). American Journal of Roentgenology. 155 (2): 299–302. doi:10.2214/ajr.155.2.2115256. PMID   2115256. Archived from the original (PDF) on 2011-06-01.CS1 maint: discouraged parameter (link)
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