Reed’s syndrome (also known as Hereditary leiomyomatosis and renal cell cancer (HLRCC), multiple cutaneous leiomyomatosis (MCL) or multiple cutaneous and uterine leiomyomatosis (MCUL)) is a disorder in which affected individuals tend to develop benign tumors containing smooth muscle tissue (leiomyomas) in the skin and, in females, the uterus. This condition also increases the risk of kidney cancer.
Source: Genetics Home Reference
Reflex sympathetic (REE-flecks SIM-pah-theh-tick) dystrophy syndrome, or RSDS for short, involves a disturbance in the sympathetic nervous system which is the network of nerves located alongside the spinal cord and controls certain bodily functions, such as opening and closing blood vessels or sweat glands. It primarily affects the hands and feet.
A bone marrow disease which results in insufficient red blood cells in the blood (anemia). The prognosis is poor with death usually occurring within a couple of years. Type 1 refers to cases where the level of blasts is less than 10% and type 2 refers to cases where the level of blasts is 10-20%. When too many immature blood cells (blasts) are produced by the bone marrow, the condition may progress to acute myeloid leukemia - occurs in about a third of cases in type 2.
Refsum disease is an extremely rare and complex disorder that affects many parts of the body. A form of the retinal degenerative disease known as retinitis pigmentosa (RP) is a common feature of this disease.Individuals with Refsum disease are unable to metabolize phytanic acid. As a result, high levels of phytanic acid accumulate in blood and tissue. It is thought that disorders associated with this disease result from harmful levels of phytanic acid. Phytanic acid is found in meat, fish, and dairy products. The body also converts phytol, a substance found in green leafy vegetables, to phytanic acid.
A rare disorder involving all the clinical features of Refsum disease as well as high blood levels of L-pipecolic acid. Refsum disease is a metabolic disorder where a deficiency of phytanic acid alpha-hydroxylase results in a buildup of phytanic acid in the body which causes neurological disorders.
A rare inherited biochemical disorder characterized by normal development initially followed by degeneration, facial anomalies and enlarged liver.
A very rare syndrome characterized by large fontanelles, joint problems and finger clubbing.
Reiter’s Syndrome refers to a group of disorders which include conjuntivitis, painful joints, and urinary tract infection. Other disorders included are ankylosing spondylitis, psoriatic arthritis, and inflammatory bowel syndrome arthritis. It is also known as reactive arthritis. This is because arthritis results from the infection at another part of the body. Another name for Reiter’s syndrome is seronegative spondyloarthropathy. This is because it causes inflammations at the joints.
Relapsing polychondritis (RP) is a rare disorder and the aetiology remains unknown. It is often associated with autoimmune disorders, and the presence of antibodies to type II collagen suggests that it may be immunologically mediated. Between 25% and 35% of patients have other autoimmune diseases too.1
The term 'relapsing polychondritis' (RP) was first used in 19602 to describe a very rare disease which is characterised by recurrent episodes of inflammation of cartilaginous structures and other connective tissues, which may involve many organs. It can involve all types of cartilage including that of joints, tracheo-bronchial tree, ear and nose and connective tissues rich in proteoglycans, such as in the heart, eye, blood vessels and inner ear.3 (Copied from Patient.co.uk)
An inherited disrder f kidney develpment where either ne kidney fails tdevelp nrmally, ne kidney is absent, ne kidney fails tdevelp nrmally and ne kidney is absent r bth kidneys are absent. Severity f the cnditin is highly variable: if there is ne nrmal kidney the cnditin can be asymptmatic but if bth kidneys are absent then the cnditin is lethal. Mre detailed infrmatin abut the symptms, causes, and treatments f Renal adysplasia dminant type is available belw.
A Renal Agenesis Meningmyelcele Mullerian Defect annymus supprt grup with infrmatin n diagnsis, treatment, symptms, alng with persnal stries and experiences with Renal Agenesis Meningmyelcele Mullerian Defect. Yu're nt alne.
Renal artery stenosis is the narrowing of the renal artery, most often caused by atherosclerosis or fibromuscular dysplasia. This narrowing of the renal artery can impede blood flow of the target kidney. Hypertension and atrophy of the affected kidney may result from renal artery stenosis, ultimately leading to renal failure if not treated.
Renal caliceal diverticuli - deafness: A very rare syndrme characterized mainly by deafness and urinary tract and kidney anmalies. Mre detailed infrmatin abut the symptms, causes, and treatments f Renal caliceal diverticuli - deafness is available belw.
Renal cancer is cancer that originates in the kidneys. The two most common types of kidney cancer are renal cell carcinoma (RCC) and transitional cell carcinoma (TCC, also known as urothelial cell carcinoma) of the renal pelvis. These names reflect the type of cell from which the cancer developed. The different types of kidney cancer (such as RCC and UCC) develop in different ways, meaning that the diseases have different long term outcomes, and need to be staged and treated in different ways. RCC is responsible for approximately 80% of primary renal cancers, and UCC accounts the majority of the remainder.
In adults, the most common type of kidney cancer is renal cell carcinoma. Other less common types of kidney cancer can occur. Young children are more likely to develop a kind of kidney cancer called Wilms' tumor.
Renal cell carcinoma (also known as, RCC, hypernephroma, renal cancer) is the most common from of kidney cancer arising frm the prximal renal tubule. It is the most common type of kidney cancer in adults. Initial treatment is most commonly a radical or partial nephrectmy. Where the tumur is confined to the renal parenchyma, the 5-year survival rate is 60-70%, but this is lowered considerably where metastases have spread. It is resistant tradiatin therapy and chemtherapy, although some cases respond timmuntherapy. Targeted cancer therapies such as sunitinib, temsirlimus, bevacizumab, interfern-alpha, and possibly srafenib have improved the utlk for RCC (progressin-free survival), although they have not yet demonstrated improved survival.
The 'renal cysts and diabetes syndrome' is an autsmal dminant disrder cmprising (1) nndiabetic renal disease resulting frm abnrmal renal develpment, and (2) diabetes, which in sme cases ccurs earlier than age 25 years and is thus cnsistent with a diagnsis f maturity-nset diabetes f the yung (MDY). The renal disease is highly variable and includes renal cysts, glmerular tufts, aberrant nephrgenesis, primitive tubules, irregular cllecting systems, ligmeganephrnia, enlarged renal pelves, abnrmal calyces, small kidney, single kidney, hrseshe kidney, and hyperuricemic nephrpathy. Affected individuals may alshave abnrmalities f the genital tract,
Renal dysplasia-limb defects syndrome (RL syndrome), alsknwn as Ulbright Hdes syndrome is a very rare[1] syndrome. The syndrome has been described in three infants, all f whm died shrtly after birth.[2] It is a cngenital syndrome[3] and is believed tfllw a autsmal recessive pattern f inheritance.
Renal dysplasia diffuse autsmal recessive is the mst cmmn heritable cystic renal disease ccurring in infancy and childhd. It is distinct frm autsmal dminant plycystic kidney disease (ADPKD), which tends tccur in an lder ppulatin. The clinical spectrum shws a wide variability, ranging frm perinatal death ta milder prgressive frm, which may nt be diagnsed until adlescence.
Diffuse cystic renal dysplasia (medical cnditin): Abnrmal kidney develpment characterized by the presence f numerus cysts thrughut the kidneys. In the reprted cases, death ccurs sn after birth.
Renal dysplasia - limb defects syndrme: A very rare syndrme characterized mainly by abnrmal kidney develpment and varius arm bne defects. Mre detailed infrmatin abut the symptms, causes, and treatments f Renal dysplasia - limb defects syndrme is available belw.
A Renal Dysplasia Megalcystis Sirenmelia annymus supprt grup with infrmatin n diagnsis, treatment, symptms, alng with persnal stries and experiences with Renal Dysplasia Megalcystis Sirenmelia
A very rare syndrme characterized mainly by kidney, genital and middle ear abnrmalities. Mre detailed infrmatin abut the symptms, causes, and treatments f Renal-genital-middle ear anmalies is available belw.
Renal glycsuria (medical cnditin): A rare metablic disrder where tmuch glucse passes intthe urinary system even thugh the bld glucse level is nrmal r lw. The cnditin may be due texcessive glucse in the urine r inability f the intestines tabsrb the glucse
Renal hepatic pancreatic dysplasia Dandy Walker cyst (medical cnditin): A very rare syndrme invlving abnrmal develpment f the kidneys, liver and pancreas as well as a brain cyst called a Dandy-Walker cyst
A rare inherited disrder characterized by lw bld uric acid level due tkidney dysfunctin. The kidney tubules fail tabsrb urate nrmally.
Renal pelvis and ureter, transitinal cell cancer: Cancer that develps in certain cells that make up the ureter and renal pelvis. The ureter is a tube that cnnects the kidney tthe bladder and the renal pelvis is a part f the kidney. Transitinal cells line the inside f the renal pelvis and the ureter.
Renal rickets: a frm f rickets ccurring in children in assciatin with and apparently caused by renal disease with hyperphsphatemia. SYN: pseudrickets, renal fibrcystic stesis, renal infantilism, renal steitis fibrsa.
Renal stedystrphy is a bne pathlgy, characterized by defective mineralizatin, that results frm kidney disease
Renal tubular acidsis (RTA) is a medical cnditin that invlves an accumulatin f acid in the bdy due ta failure f the kidneys tapprpriately acidify the urine.[1] When bld is filtered by the kidney, the filtrate passes thrugh the tubules f the nephrn, allwing fr exchange f salts, acid equivalents, and ther slutes befre it drains intthe bladder as urine. The metablic acidsis that results frm RTA may be caused either by failure trecver sufficient (alkaline) bicarbnate ins frm the filtrate in the early prtin f the nephrn (prximal tubule) r by insufficient secretin f (acid) hydrgen ins intthe latter prtins f the nephrn (distal tubule). Althugh a metablic acidsis alsccurs in thse with renal insufficiency, the term RTA is reserved fr individuals with pr urinary acidificatin in therwise well-functining kidneys. Several different types f RTA exist, which all have different syndrmes and different causes.