Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common, life-threatening inherited human disorders and the most common hereditary kidney disease. It is associated with large interfamilial and intrafamilial variability, which can be explained to a large extent by its genetic heterogeneity and modifier genes. It is also the most common of the inherited cystic kidney diseases — a group of disorders with related but distinct pathogenesis, characterized by the development of renal cysts and various extrarenal manifestations, which in case of ADPKD include cysts in other organs, such as the liver, seminal vesicles, pancreas, and arachnoid membrane, as well as other abnormalities, such as intracranial aneurysms and dolichoectasias, aortic root dilatation and aneurysms, mitral valve prolapse, and abdominal wall hernias. Over 50% of patients with ADPKD eventually develop end stage kidney disease and require dialysis or kidney transplantation. ADPKD is estimated to affect at least one in every 1000 individuals worldwide, making this disease the most common inherited kidney disorder with a diagnosed prevalence of 1:2000 and incidence of 1:3000-1:8000 in a global scale.
Renal cell carcinoma (RCC) is a kidney cancer that originates in the lining of the proximal convoluted tubule, a part of the very small tubes in the kidney that transport primary urine. RCC is the most common type of kidney cancer in adults, responsible for approximately 90–95% of cases. RCC occurrence shows a male predominance over women with a ratio of 1.5:1. RCC most commonly occurs between 6th and 7th decade of life.
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.
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.
Horseshoe kidney, also known as ren arcuatus, renal fusion or super kidney, is a congenital disorder affecting about 1 in 500 people that is more common in men, often asymptomatic, and usually diagnosed incidentally. In this disorder, the patient's kidneys fuse to form a horseshoe-shape during development in the womb. The fused part is the isthmus of the horseshoe kidney. The abnormal anatomy can affect kidney drainage resulting in increased frequency of kidney stones and urinary tract infections as well as increase risk of certain renal cancers.
Renal osteodystrophy is currently defined as an alteration of bone morphology in patients with chronic kidney disease (CKD). It is one measure of the skeletal component of the systemic disorder of chronic kidney disease-mineral and bone disorder (CKD-MBD). The term "renal osteodystrophy" was coined in 1943, 60 years after an association was identified between bone disease and kidney failure.
Inferior vena cava syndrome (IVCS) is a very rare constellation of symptoms resulting from either an obstruction, or stenosis of the inferior vena cava. It can be caused by physical invasion or compression by a pathological process or by thrombosis within the vein itself. It can also occur during pregnancy. Pregnancy leads to high venous pressure in the lower limbs, decreased blood return to the heart, decreased cardiac output due to obstruction of the inferior vena cava, sudden rise in venous pressure which can lead to placental separation, and a decrease in kidney function. All of these issues can arise from lying in the supine position during late pregnancy which can cause compression of the inferior vena cava by the uterus. Symptoms of late pregnancy inferior vena cava syndrome consist of intense pain in the right hand side, muscle twitching, hypotension, and fluid retention.
Pyonephrosis is a dangerous kidney infection that is characterized by pus accumulation in the renal collecting system. It is linked to renal collecting system blockage and suppurative renal parenchymal destruction, which result in complete or nearly complete kidney failure.
Interstitial nephritis, also known as tubulointerstitial nephritis, is inflammation of the area of the kidney known as the renal interstitium, which consists of a collection of cells, extracellular matrix, and fluid surrounding the renal tubules. It is also known as intestinal nephritis because the clinical picture may include mesenteric lymphadenitis in some cases of acute pyelonephritis. More specifically, in case of recurrent urinary tract infection, secondary infection can spread to adjacent intestine. In addition to providing a scaffolding support for the tubular architecture, the interstitium has been shown to participate in the fluid and electrolyte exchange as well as endocrine functions of the kidney.
Fibromuscular dysplasia (FMD) is a non-atherosclerotic, non-inflammatory disease of the blood vessels that causes abnormal growth within the wall of an artery. FMD has been found in nearly every arterial bed in the body, although the most commonly affected are the renal and carotid arteries.
The nutcracker syndrome (NCS) results most commonly from the compression of the left renal vein (LRV) between the abdominal aorta (AA) and superior mesenteric artery (SMA), although other variants exist. The name derives from the fact that, in the sagittal plane and/or transverse plane, the SMA and AA appear to be a nutcracker crushing a nut.
Angiomyolipomas are the most common benign tumour of the kidney. Although regarded as benign, angiomyolipomas may grow such that kidney function is impaired or the blood vessels may dilate and burst, leading to bleeding.
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 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.
Wunderlich syndrome can refer to one of several conditions. One condition called Wunderlich syndrome is spontaneous, nontraumatic kidney bleeding confined to the subcapsular and perirenal space. It may be the first manifestation of a renal angiomyolipoma (AML), or the rupture of a renal artery or intraparenchymal aneurysm. The renal condition should not be confused with other conditions which are Müllerian duct anomalies, such as Herlyn-Werner-Wunderlich syndrome. Some sources refer to double uters-hemivagina-renal agenesis as simply Wunderlich syndrome, but Herlyn-Werner-Wunderlich is a better term to distinguish the two.
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.
Ovarian vein syndrome is a rare condition in which a dilated ovarian vein compresses the ureter. This causes chronic or colicky abdominal pain, back pain and/or pelvic pain. The pain can worsen on lying down or between ovulation and menstruation. There can also be an increased tendency towards urinary tract infection or pyelonephritis. The right ovarian vein is most commonly involved, although the disease can be left-sided or affect both sides. It is currently classified as a form of pelvic congestion syndrome.
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.
Renal medullary carcinoma is a rare type of cancer that affects the kidney. It tends to be aggressive, difficult to treat, and is often metastatic at the time of diagnosis. Most individuals with this type of cancer have sickle cell trait or rarely sickle cell disease, suggesting that the sickle cell trait may be a risk factor for this type of cancer.
Fraley syndrome is a condition where the superior infundibulum of the upper calyx of the kidney is obstructed by the crossing renal artery branch, causing distension and dilatation of the calyx and presenting clinically as haematuria and nephralgia. Furthermore, when the renal artery obstructs the proximal collecting system, filling defects can occur anywhere in the calyces, pelvis, or ureter.
Page kidney or Page phenomena is a potentially reversible form of secondary arterial hypertension caused by external compression of the renal parenchyma by some perirenal process. Any process that causes mass effect can be a potential cause of Page kidney. Hematomas, urinomas, tumors, cysts, lymphoceles, and aneurysms have all been reported in the literature. The compression is believed to cause activation of the renin–angiotensin–aldosterone system (RAAS) via microvascular ischemia.
