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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 1221% in patients with kidney stones. The disease is bilateral in 70% of cases.
Up to 27 percent of individuals greater than 50 years of age may have simple renal cysts that cause no symptoms.
Complications associated with medullary sponge kidney include the following:
- Kidney stones
- Urinary tract infection (UTI)
- Blood in the urine
- Distal renal tubular acidosis (Type 1 RTA)
- Chronic kidney disease (rarely)
- Marked chronic pain
In ADPKD patients, gradual cyst development and expansion result in kidney enlargement, and during the course of the disease, glomerular filtration rate (GFR) remains normal for decades before kidney function starts to progressively deteriorate, making early prediction of renal outcome difficult. The CRISP study, mentioned in the treatment section above, contributed to build a strong rationale supporting the prognostic value of total kidney volume (TKV) in ADPKD; TKV (evaluated by MRI) increases steadily and a higher rate of kidney enlargement correlated with accelerated decline of GFR, while patient height-adjusted TKV (HtTKV) ≥600 ml/m predicts the development of stage 3 chronic kidney disease within 8 years.
Besides TKV and HtTKV, the estimated glomerular filtration rate (eGFR) has also been tentatively used to predict the progression of ADPKD. After the analysis of CT or MRI scans of 590 patients with ADPKD treated at the Mayo Translational Polycystic Kidney Disease Center, Irazabal and colleagues developed an imaging-based classification system to predict the rate of eGFR decline in patients with ADPKD. In this prognostic method, patients are divided into five subclasses of estimated kidney growth rates according to age-specific HtTKV ranges (1A, 6.0%) as delineated in the CRISP study. The decline in eGFR over the years following initial TKV measurement is significantly different between all five patient subclasses, with those in subclass 1E having the most rapid decline.
A renal cyst or kidney cyst, is a fluid collection in or on the kidney. There are several types based on the "Bosniak classification". The majority are benign, simple cysts that can be monitored and not intervened upon. However, some are cancerous or are suspicious for cancer and are commonly removed in a surgical procedure called nephrectomy.
Numerous renal cysts are seen in the cystic kidney diseases, which include polycystic kidney disease and medullary sponge kidney.
It is accepted that kidney transplantation is the preferred treatment for ADPKD patients with end-stage renal disease (ESRD). Among American patients on the kidney transplant waiting list (as of December 2011), 7256 (8.4%) were listed due to cystic kidney disease and of the 16,055 renal transplants performed in 2011, 2057 (12.8%) were done for patients with cystic kidney disease, with 1,189 from deceased donors and 868 from living donors.
PKD is caused by abnormal genes which produce a specific abnormal protein which has an adverse affect on tubule development. PKD is a general term for two types, each having their own pathology and genetic cause: autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD).
PKD is one of the most common hereditary diseases in the United States, affecting more than 600,000 people. It is the cause of nearly 10% of all end-stage renal disease. It equally affects men, women, and all races. PKD occurs in some animals as well as humans.
Ask-Upmark kidneys are a cause of secondary hypertension that can be curable.
Many other complications arise from ureteroceles. Redundant collection systems are usually smaller in diameter than single, and predispose the patient to impassable kidney stones. The effective "bladder within a bladder" compounds this problem by increasing the collision of uric acid particles, the process by which uric acid stones are formed. Ureterocele is also associated with poor kidney function. It can cause frequent blockage of the ureter leading to serious kidney damage. In other cases, a small, upper portion of the kidney is congenitally non-functional. Though often benign, this problem can necessitate the removal of non-functioning parts.
Mortality is indirect and caused by complications. After cholangitis occurs, patients typically die within 5–10 years.
Definitive causes of ureterocele have not been found. While the abnormal growth occurs within the uterus, it has not been substantiated that genetics are to blame.
It is thought to be congenital or the consequence of vesicoureteral reflux.
Greater than 50% of cases of visible hematuria in children have an identifiable cause. Common causes of visible hematuria in pediatric populations are:
- urinary tract infection
- perineal or urethral irritation
- congenital abnormalities–
- Non-vascular—ureteropelvic junction obstruction, posterior urethral valves, urethral prolapse, urethral diverticula, multicystic dysplastic kidney
- Vascular—arteriovenous malformations, hereditary hemorrhagic telangiectasias, renal vascular thromboses
- trauma
- acute nephritis—characterized by visible hematuria, white blood cells in the urine, and a transient decline in renal function, commonly caused by medications
- coagulopathy
- kidney stones
- IgA nephropathy–suspected in a child with dark urine and recent upper respiratory infection
- Post-streptococcal glomerulonephritis–suspected in a child with dark brown urine following recent streptoccocal pharyngitis or impetigo
Inflammation of or injury to the glomeruli can cause leakage of red blood cells, resulting in misshapen cells and red blood cell casts in the urine. Glomerular bleeding is frequently accompanied by proteinuria, or leakage of protein into the urine.
Common causes include
- IgA nephropathy
- Hereditary nephritis (Alport's disease)
- Benign familiar hematuria
- Glomerulonephritis–a group of inflammatory diseases of the glomeruli, leading to hematuria, hypertension, and peripheral edema
Caroli disease is typically found in Asia, and diagnosed in persons under the age of 22. Cases have also been found in infants and adults. As medical imaging technology improves, diagnostic age decreases.
It has been estimated that VUR is present in more than 10% of the population. Younger children are more prone to VUR because of the relative shortness of the submucosal ureters. This susceptibility decreases with age as the length of the ureters increases as the children grow. In children under the age of 1 year with a urinary tract infection, 70% will have VUR. This number decreases to 15% by the age of 12. Although VUR is more common in males antenatally, in later life there is a definite female preponderance with 85% of cases being female.
The greatest risk factors for RCC are lifestyle-related; smoking, obesity and hypertension (high blood pressure) have been estimated to account for up to 50% of cases.
Occupational exposure to some chemicals such as asbestos, cadmium, lead, chlorinated solvents, petrochemicals and PAH (polycyclic aromatic hydrocarbon) has been examined by multiple studies with inconclusive results.
Another suspected risk factor is the long term use of non-steroidal anti-inflammatory drugs (NSAIDS).
Finally, studies have found that women who have had a hysterectomy are at more than double the risk of developing RCC than those who have not. Moderate alcohol consumption, on the other hand, has been shown to have a protective effect. The reason for this remains unclear.
The American Urological Association recommends ongoing monitoring of children with VUR until the abnormality resolves or is no longer clinically significant. The recommendations are for annual evaluation of blood pressure, height, weight, analysis of the urine, and kidney ultrasound.
Choledochal cysts are treated by surgical excision of the cyst with the formation of a roux-en-Y anastomosis hepaticojujenostomy/ choledochojujenostomy to the biliary duct.
Future complications include cholangitis and a 2% risk of malignancy, which may develop in any part of the biliary tree. A recent article published in Journal of Surgery suggested that choledochal cysts could also be treated with single-incision laparoscopic hepaticojejunostomy with comparable results and less scarring. In cases of saccular type of cyst, excision and placement of T-shaped tube is done.
Currently, there is no accepted indication for fetal intervention in the management of prenatally suspected choledochal cysts.
Hereditary factors have a minor impact on individual susceptibility with immediate relatives of people with RCC having a two to fourfold increased risk of developing the condition. Other genetically linked conditions also increase the risk of RCC, including hereditary papillary renal carcinoma, hereditary leiomyomatosis, Birt–Hogg–Dube syndrome, hyperparathyroidism-jaw tumor syndrome, familial papillary thyroid carcinoma, von Hippel–Lindau disease and sickle cell disease.
The most significant disease affecting risk however is not genetically linked – patients with acquired cystic disease of the kidney requiring dialysis are 30 times more likely than the general population to develop RCC.
Kidney tumours may be discovered on medical imaging incidentally (i.e. an incidentaloma), or may be present in patients as an abdominal mass or kidney cyst, hematuria, abdominal pain, or manifest first in a paraneoplastic syndrome that seems unrelated to the kidney.
The RENAL Nephrometry Scoring System is used to measure the complexity of kidney tumors for surgical excision, and is estimated by CT scan as follows:
A higher score indicates a higher difficulty in removing the tumor surgically, potentially making nephrectomy necessary.
Urethral diverticulum can occur in men, and can cause complications including kidney stones and urinary tract infections.
The incidence of urethral diverticulum has been increasing in the 2000s, likely due to increasing diagnosis and detection of the condition. It is estimated to be present in as low as 0.02% of all women and as high as 6% of all women, and 40% of women with lower urinary tract symptoms. Most symptomatic urethral diverticula are present in women from 30–60 years old.
84% of periurethral masses are due to urethral diverticula.