What is Autosomal Recessive Polycystic Kidney?
Autosomal Recessive Polycystic Kidney Disease is a rare autosomal recessive disorder that may not be detected until after infancy. In addition to cysts in the kidneys, cysts can also be found in the liver, in meaningful liver disease.
Pathology of Autosomal Recessive Polycystic Kidney Disease
Both kidneys are enlarged and macroscopically reveal many cysts throughout the cortex and medulla. Microscopic examination shows that “cysts” are dilated collecting ducts. Interstitium and residual tubes may be normal at birth, but the proliferation of these fibrosis and tubular atrophy may result in renal failure.
Most sufferers also have cysts in the liver. In severe cases, the cyst in the liver may be associated with cirrhosis, portal hypertension, and death due to esophageal varices. If the severity of the butt manifestation exceeds the severity of the manifestation of renal involvement, the disorder is called congenital liver fibrosis. Whether infantile polycystic disease and congenital tire fibrosis are the spectral ends of an opposing single disorder or self-recessive autosomal disorder with similar manifestations remains to be determined.
Clinicals Manifestation of Autosomal Recessive Polycystic Kidney Disease
Typical patients have bilateral waist mass at birth. This disorder can be associated with oligohydramnios, because the fetus does not produce enough urine. Oligohydramnios can lead to Potter syndrome (pug nose, chin dizziness, epicanthic fold, low abnormal ears, leg abnormalities), as a result of fetal compression, and pulmonary hypoplasia. Pulmonary hypoplasia can cause neonatal respiratory distress, with spontaneous pneumothorax. The relationship between pulmonary and renal developmental disorders is quite common to justify renal ultrasound examination in all neonates with spontaneous pneumothorax. Macroscopic or microscopic haematuria and hypertension (which may be severe) are common. Kidney function can be normal or decreased, depending on the severity of renal malformation. Rarely, patients after the newborn period first come with conditions such as nephrogenic diabetes insipidus, renal insufficiency or hypertension.
Diagnosis of Autosomal Recessive Polycystic Kidney Disease
Diagnosis is demonstrated by clinical manifestations and is supported by ultrasonography, which shows uniform and uniform hyperecogenic enlargement. Because renal ultrasound examination can fail to determine its cyst, intravenous pyelography may be considered. A satisfactory portogram will show dilated dilated ductus collektivus. Because these ducts run from the cortex to the medulla, they will look like radial lines similar to the wheel bars. But radiographic examination can rarely confirm the diagnosis: (hence in these troubled circumstances the surgeon option of the right liver and kidney performed at the end of the age of one year is to confirm the diagnosis and enable cyber advice.
The differential diagnosis includes other causes of bilateral renal enlargement, such as multicystic dysplasia, hydronephrosis, William tumor, and renal vein thrombosis.
Treatment of Autosomal Recessive Polycystic Kidney Disease
The treatment is supportive, including careful management of hypertension.
Prognosis of Autosomal Recessive Polycystic Kidney Disease
Children with severe kidney enlargement may die in neonatal periods due to pulmonary or renal insufficiency. Resistant children may live for several years before renal insufficiency. During this time, the size of the kidneys contracts and the hypertension becomes less severe. If renal failure occurs, dialysis and renal transplantation should be considered. In patients suffering from liver fibrosis, cirrhosis can lead to portal hypertension, therefore the prognosis is poor.