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Renal medullary fibroma, also renomedullary interstitial cell tumour and medullary fibroma, is a benign kidney tumour. It is commonly an incidental finding.
As of 2009, there have been approximately 120 reported cases of renal medullary carcinoma. In every instance except for one, the patients were positive for cell sickling. Wilms' tumor, the most common renal tumor of childhood, is responsible for 6-7% of childhood cancer whereas all remaining primary renal tumors (among which is included renal medullary carcinoma) collectively account for less than 1% of all childhood cancer and less than 10% of primary kidney tumors in childhood.
Birt-Hogg-Dubé Syndrome patients, families, and caregivers are encouraged to join the NIH Rare Lung Diseases Consortium Contact Registry. This is a privacy protected site that provides up-to-date information for individuals interested in the latest scientific news, trials, and treatments related to rare lung diseases.
Since the cancer most often presents at an advanced stage, prognosis is generally very poor, with median survival times of 3 months (range 1–7 months). Longer survival of beyond one year was reported in one patient and of up to eight years in one individual whose tumor was well circumscribed and non-metastatic at the time of diagnosis, suggesting that early detection could dramatically improve survival.
The disorder has been reported in more than 100 families worldwide, though some sources cite up to 400 families, and it is inherited in an autosomal dominant pattern. It is considered to be under-diagnosed because of the variability in its expression. The pattern of mutations and spectrum of symptoms are heterogeneous between individuals. Less severe skin phenotypes are seen in women and people of both sexes who have a late onset of skin symptoms.
Renal medullary fibromas are diagnosed by pathologists based on the examination of tissue.
They consist of bland spindle-shaped or stellate-shaped cells in a loose stroma. Renal tubules may be entrapped.
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.
Many forms of cystic kidney disease can be detected in children prior to birth. Abnormalities which only affect one kidney are unlikely to cause a problem with the healthy arrival of a baby. Abnormalities which affect both kidneys can have an effect on the baby's amniotic fluid volume which can in turn lead to problems with lung development. Some forms of obstruction can be very hard to differentiate from cystic renal disease on early scans.
The evidence linking vitamin C supplements with an increased rate of kidney stones is inconclusive. The excess dietary intake of vitamin C might increase the risk of calcium oxalate stone formation, in practice this is rarely encountered. The link between vitamin D intake and kidney stones is also tenuous. Excessive vitamin D supplementation may increase the risk of stone formation by increasing the intestinal absorption of calcium; correction of a deficiency does not.
Up to 27 percent of individuals greater than 50 years of age may have simple renal cysts that cause no symptoms.
There are no conclusive data demonstrating a cause-and-effect relationship between alcoholic beverage consumption and kidney stones. However, some have theorized that certain behaviors associated with frequent and binge drinking can lead to dehydration, which can, in turn, lead to the development of kidney stones.
The American Urological Association has projected that global warming will lead to an increased incidence of kidney stones in the United States by expanding the "kidney stone belt" of the southern United States.
People with lymphoproliferative/myeloproliferative disorders who were treated with chemotherapy developed symptomatic kidney stones 1.8% of the time in one study.
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
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.
The majority of cases occur in the second and third decades, with approximately 75% of cases occurring before the age of 30 years 1,12-15. There is no recognised gender predilection. Examples have however been seen in patients up to the age of 75 years. In some series there is a male predilection 12 whilst in others no such distribution is found 2
Chondromyxoid fibroma is a type of cartilaginous tumor.
Most cases are characterised by GRM1 gene fusion or promoter swapping. It can be associated with a translocation at t(1;5)(p13;p13).
A chondromyxoid fibroma (CMF) is an extremely rare benign cartilaginous neoplasm which accounts for < 1% bone tumours.
The standard treatment of COC is enucleation and curettage (E&C). Recurrence following E&C is rare.
When inherited, multiple endocrine neoplasia type 2 is transmitted in an autosomal dominant pattern, which means affected people have one affected parent, and possibly affected siblings and children. Some cases, however, result from spontaneous new mutations in the "RET gene". These cases occur in people with no family history of the disorder. In MEN2B, for example, about half of all cases arise as spontaneous new mutations.
Cystic kidney disease refers to a wide range of hereditary, developmental, and acquired conditions. With the inclusion of neoplasms with cystic changes, over 40 classifications and subtypes have been identified. Depending on the disease classification, the presentation of disease may be from 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 cystic kidney disease is found in the male population 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 cause related pain and/or hemorrhage.
Of the cystic kidney diseases, the most common is Polycystic kidney disease; having two prevalent sub-types: autosomal recessive and autosomal dominant polycystic kidney disease. Autosomal Recessive Polycystic Kidney Disease (ARPKD) is primarily diagnosed in infants and young children. Autosomal dominant polycystic kidney disease (ADPKD) is most often diagnosed in adulthood.
Another example of cystic kidney disease is Medullary sponge kidney.
Variants with edema can be associated with Meigs' syndrome. They may be a part of nevoid basal cell carcinoma syndrome (Gorlin syndrome).
The table in the multiple endocrine neoplasia article lists the genes involved in the various MEN syndromes. Most cases of MEN2 derive from a variation in the "RET proto-oncogene", and are specific for cells of neural crest origin. A database of MEN" implicated RET mutations is maintained by the University of Utah Department of Physiology.
The protein produced by the "RET gene" plays an important role in the TGF-beta (transforming growth factor beta) signaling system. Because the TGF-beta system operates in nervous tissues throughout the body, variations in the RET gene can have effects in nervous tissues throughout the body.
MEN2 generally results from a gain-of-function variant of a "RET gene". Other diseases, such as Hirschsprung disease, result from loss-of-function variants. OMIM # lists the syndromes associated with the RET gene.
Renal tuberculosis
And other causes of hypercalcemia (and thus hypercalciuria)
- Immobilization (leading to hypercalcemia and hypercalciuria)
- Milk-alkali syndrome
- Hypervitaminosis D
- Multiple myeloma
A recommend surveillance program for Multiple Endocrine Neoplasia Type 1 has been suggested by the International Guidelines for Diagnosis and Therapy of MEN syndromes group.
Epidemiologically speaking, nephronophthisis, occurs equally in both sexes, and has an estimate 9 in about 8 million rate in individuals. Nephronophthisis is the leading monogenic cause of end-stage renal disease.
Medullary carcinoma may refer to one of several different tumors of epithelial origin. As the term "" is a generic anatomic descriptor for the mid-layer of various organ tissues, a medullary tumor usually arises from the "mid-layer tissues" of the relevant organ.
Medullary carcinoma most commonly refers to:
- Medullary thyroid cancer
- Medullary carcinoma of the breast
Medullary carcinoma may also refer to tumors of:
- Pancreas
- Ampulla of Vater
- Gallbladder
- Stomach
- Large intestine
- Kidney — Renal medullary carcinoma
The central odontogenic fibroma is a rare benign odontogenic tumor. It is more common in adults, with the average age being 40. It is twice as likely to affect women than men. It is usually found either in the anterior maxilla or the posterior mandible. Radiographically it presents with either radiolucency or mixed radiolucency/opaque. The simple type is characterized by delicate fibrillar stroma of collagen containing fibroblasts; the WHO type is characterized by more mature fibrillar stroma of collagen. Treatment is by surgical removal