GINJAL POLIKISTIK

definition
Polycystic kidney is divided into two forms of autosomal dominant polycystic kidney disease frequently encountered in children due to the nature of autosomal dominant (ADPKD) is the time symptoms appear in early and autosomal recessive polycystic kidney disease (ARPKD), which is common in adults because is an autosomal recessive nature of the symptoms appear later. Polycystic have two forms that are autosomaldominan adult form and shape children who are autosomal recessive (Purnomo, 2003). But on the other books mentioned polycystic kidney is divided into two forms of autosomal recessive polycystic kidney disease (Autosomal Recessive Polycystic Kidney / ARPKD) and a form of autosomal dominant polycystic kidney disease (Autosomal Dominant Polycytstic Kidney / ADPKD

symptoms
Polycystic kidney disease in adults or dominanautosomal polycystic kidney disease does not cause symptoms until the fourth decade, when there was quite enlarged kidneys. Symptoms are: Pain that is felt but sometimes also felt a very severe pain, this area is a sign of peritoneal irritation caused by the cyst if pain occurs in the perceived feel constantly then it is a sign of one or more cysts magnification Haematuria is the next phenomenon that occurs in polycystic. Gross hematuria: rupture occurs when the cysts were entered into the pelvis ginjal.Hematuria microscopy is more common in comparative gross hematuria and a warning against the possibility of a kidney problem that there are no signs and symptoms

epidemiology
Autosomal recessive polycystic kidney disease (ARPKD) were of a rare genetic disease diterjadi with a ratio of 1: 6000 to 1: 40,000, while the autosomal dominant polycystic kidney disease (ADPKD) has a prevalence of approximately 1: 500 and is more common in men than in Kausia AfricanAmerican populations (Price and Wilson, 2005). at the other books mentioned autosomal recessive polycystic kidney disease (ARPKD) has an estimated incidence of between 1:10,000 and 1: 40,000, while the dominant polycystic kidney disease \ autosomal (ADPKD) has figures isekitar prevalence of 1: 500 to 1 in 1,000 individuals and counted approximately 10% of children are at the level of chronic renal failure

Pathogenesis
Autosomal recessive polycystic kidney disease ( ARPKD ) is commonly seen in people who are homozygous for the mutated allele , whereas heterozygotes showed rare disease phenotype . In autosomal recessive disease that has several characteristics , namely : Only tereksperi in homozygous ( aa ) , whereas in heterozygotes ( Aa ) is a normal phenotype only carrier Men and women were equally likely to be exposed Horizontal inheritance patterns seen in pedigree maksundya appeared in siblings but not parents . Based on the characteristics of the autosomal dominant polycystic kidney peyakit often referred to as a form in adults because awitanya that munculsering slow . In general there are two genes that contribute to the shape ter cysts are: PKD - 1 ( defective genes ) located on the short arm of chromosome 16 PKD - 2 ( defective genes ) located on chromosome 4 PKD - 1 is located on the short arm of chromosome 16 . This gene encodes a protein and complex , attached to the membrane , mainly extracellular and called polikistin - 1 . Polikistin - 1 has the same function with proteinyang known to play a role in cell adhesion to cell or cell to matrix . But at this time is not known how mutations in these proteins can lead to cysts , but is expected disturbance cell - matrix interactions dapatmeneybabkan interference with growth , differentiation and matrix formation by tubular epithelial cells and cause the formation of kista.PKD - 2 is located on chromosome 4 and encodes polikistin - 2 is a protein with 968 amino acids . Although structurally different but in the estimate and polikistin polikistin - 1 - 2 work together by forming a heterodimer . This is why , if a mutation occurs in one genmaka will cause the same phenotype

diagnosis
examination Investigations can be done to assist in the diagnosis menegagkan are : Unltasonografi renal ultrasound examination of the kidneys is a noninvasive technique that has the purpose to determine the size of the kidney and cysts . It also can be seen a picture of the fluid contained in the cavity due to the reflection caused by fluid filled cyst akanmemberi appearance of a dense structure MRI Magnetic resonance imaging ( MRI ) is more sensitive and can mengidentifikasikistik kidney which has a diameter of 3 mm ( Grantham , 2008) as shown in appendix 3.3 . MRI performed for screening in patients with autosomal dominant polycystic kidney ( ADPKD ) whose family members have a history of aneurysm or stroke ( Grantham , 2008) Computed tomography ( CT ) Sensitivity is equal to MRI but CT using contrast media ( Grantham , 2008 ) as shown in appendix 3.4 . Renal biopsy is not performed routinely seecara and can be done if diagnosistidak ditegagkan with imaging that has been done