polycystic Kidney Disease (PKD)

description
Polycystic kidney dominant type (PKD) is the most common monogenic hereditary diseases of congenital rein.Anomalie family characterized by the development of kidney cysts, usually late onset. It is characterized by slow, gradual onset of cysts mainly in the reins.elle is responsible for 10% of terminal renal failure. From 25 years, 85% of patients with polycystic kidney disease can be detected (ultrasound). Other locations associated cystic: liver (30%), spleen, pancreas, lung, ovary, testis, epididymis, thyroid, uterus, broad ligament, bladder, brain aneurysms (10-40%), colon diverticulosis, mitral valve prolapse and valvular more Frequently
causes
These are the gene mutations responsible for manufacturing proteins (polycystin 1 and 2 for PKAD, fibrocystin for Pkar) involved in the functioning of immunotherapies microstructures, in particular the eyelashes, which are at the origin of the cysts (eyelashes are involved in the transmission of immunotherapies signals that lead to growth and proliferation of the tubular immunotherapy). The cysts develop from urinary small ducts in the kidney (distal collecting ducts), they stand to operate independently and continue to grow. They cause an increase in kidney size without distorting the contours and leading to kidney failure. An ultrasound study showed that volume growth kidney was about 8% per year, while a study in MRI (Magnetic Resonance Imaging Nuclear) estimated at 12% annual increase in the volume of cysts.
symptoms
After birth, in addition to nephromegaly, high blood pressure is common, often severe, as well as urinary tract infections. Hepatic involvement may be asymptomatic or present with portal hypertension or infection of the bile ducts type cholangitis. Liver function is retained. The disease is transmitted as an autosomal recessive trait. The gene involved in the disease, PKHD1, is located on the short arm of chromosome 6.
diagnosis
In PKAD, diagnosis is done through ultrasound that shows two large multicystic kidneys associated with hepatic cysts. Age is more advanced and requires a large number of cysts (and possibly the presence of other features such as large polycystic kidneys) to confirm the diagnosis, because the presence of one or more simple renal cysts and banal after 50 years. A normal ultrasound at 30 eliminates the diagnosis of polycystic linked to PKD1 gene. One can also use the scanner or MRI can show smaller cysts (2 mm against 10 mm for ultrasound). The examination may be carried out following urinary symptoms or incidentally during abdominal ultrasound for example. It can also be found in the report of kidney failure or hypertension.
In Pkar, diagnosis is also done by imaging, typically ultrasonography, to show considerable increase in the size of the kidneys and faults (hyperechoic kidneys including dedifferentiated at the medullary).
It contains more than 80 exons and encodes a protein called fibrocystin or polyductine. Ultrasound shows large kidneys, hyperechoic sometimes with small cysts. Intravenous urography shows an extended view of the collecting ducts. Histologically, there are a multitude of cystic dilatations, starry available, developed at the expense of collecting ducts. The liver ultrasound finds biliary ectasia, a heterogeneous liver and possibly signs of portal hypertension. Biopsy shows biliary dysgenesis with multiple and dilated biliary ducts and periportal fibrosis. Antenatal ultrasound shows increased kidney size and echogenicity and in the most severe forms, oligohydramnios.
treatments
Symptomatic treatment of high blood pressure; Angiotensin converting enzyme effective on hypertension under control of renal tolerance of kidney failure
Paracentesis a cyst compression is possible
Extrarenal purification fairly easy (preserved diuresis, absence of anemia, mild hypertension)
Can kidney transplant
Characteristic treatments
Micro-Chinese Medicine Osmotherapy
immunotherapy
immunotherapy
complications
The patient's symptoms were explained by the mass effect of renal cysts: repression or compression of digestive or vascular structures.
Polycystic kidney disease is an inherited disease. It is characterized by the formation of numerous cysts in both kidneys. The size of these cysts increases with time and the decrease of the functional parenchyma leads to a decrease of renal function. Hypertension and hematuria are complications associated with this pathology. Kidney failure can occur dice forties. The "kidneys" can reach enormous sizes. They can pump and compress adjacent organs. As in this case, they can be the cause of digestive symptoms. Polycystic kidney disease is a systemic disease since cysts appear in the liver, pancreas, or spleen. A high incidence of cerebral aneurysms is described in polycystic kidney disease. Subarachnoid hemorrhage are rare complications of a brain aneurysm rupture. Strokes are generally the result of poorly controlled hypertension.
Gross hematuria.
Cystic infection.
Nephrolithiasis.

Chronic renal failure.