What is Autosomal recessive polycystic kidney disease features include: and explain in detail?
Ans. A. Can be diagnosed intrauterineExplanationClinical features of ARPKD (Autosomal recessive polycystic kidney disease) are:Classic ARPKD is generally diagnosed in utero or within the neonatal period and characterized by greatly enlarged echogenic kidneys in diseased fetuses. (Option a)Reduced fetal urine production may contribute to oligohydramnios and pulmonary hypoplasia.About 30% of affected neonates die shortly after birth due to respiratory insufficiency. Close to 60% of mortality occurs within the first month of life.In the classic group, most patients are bom with renal insufficiency and ESRD (End stage renal disease). (Option b)However, infants often have a transient improvement in their GFR; death from renal insufficiency at this stage is rare.Some patients are diagnosed after the neonatal stage and form the older group. Morbidity and mortality in this group often involve systemic hypertension, progressive renal insufficiency, and liver manifestations.The hallmarks of ARPKD liver disease are biliary dysgenesis due to a primary ductal plate malformation with associated periportal fibrosis, namely congenital hepatic fibrosis (CHF) and dilatation of intrahepatic bile ducts (Caroli's disease). CHF and Caroli's disease can then lead to portal hypertension exhibiting hepatosplenomegaly, variceal bleeding, and cholangitis.Some patients with the diagnosis of ARPKD at 1 year of age with nephromegaly exhibit slowly declining renal function over 20 years with only minimally enlarged kidneys at ESRD (Option c and e) and markedly atrophic kidneys following renal transplantation.The slow progression of renal disease is likely due to increasing fibrosis rather than the development of cysts.Systemic hypertension is common in all ARPKD patients, even those with normal renal function. (option d)