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Pathology - Cystic renal disorders
Autosomal dominant polycystic kidney disease The predominant cystic renal disease, occurring in approximately 1 in 500 individuals, is a primary contributor to end-stage renal failure. • Ninety percent of cases result from a hereditary mutation in the PKD1 gene located on chromosome 16. Deficiencies in the functionality of the PKD1 protein result in cystic alterations in renal tubules and the degeneration of normal renal tissue. Most patients often present in adulthood, generally between the ages of 30 and 40, exhibiting hypertension, flank pain, and hematuria. The kidneys are significantly enlarged, exceeding 2 kg in weight, and are entirely substituted by cysts. Histologically, both kidneys have many cysts lined by flattened cuboidal epithelium, with minimal intervening normal renal parenchyma. Extra-renal symptoms encompass hepatic cysts and berry aneurysms. Subarachnoid hemorrhage resulting from a ruptured berry aneurysm is a severe consequence of adult polycystic kidney disease (APKD) and a prevalent cause of abrupt mortality.
Autosomal recessive polycystic kidney disease • A rare, hereditary condition resulting in bilateral polycystic kidneys and congenital hepatic fibrosis. • Induced by mutations in the PKHD1 gene located on chromosome 6p, which encodes the protein fibrocystin, a constituent of the cilia on collecting duct epithelial cells. • Morphologically, the kidneys are enlarged and exhibit numerous cysts. • Histologically, the cysts are bordered by flattened cuboidal epithelium. • Severe cases result in neonatal mortality due to pulmonary hypoplasia. • Patients with milder renal illness who survive into childhood experience congenital hepatic fibrosis and problems associated with portal hypertension.
Medullary cystic disease • Congenital occurrence of several cysts at the corticomedullary junction, ranging in size from less than 1 mm to 2 cm. The pediatric condition, juvenile nephronophthisis, is inherited in an autosomal recessive manner and is linked to mutations in the NPH1, NPH2, or NPH3 genes. The adult condition, uraemic medullary cystic disease, is inherited in an autosomal dominant manner and is linked to mutations in the MCDK1 or MCDK2 genes.
Medullary sponge kidney • Characterized by an abnormal expansion of the collecting ducts, resulting in microcystic alterations of the renal medullae and papillae accompanied by calcification. • This condition typically manifests in adulthood with recurrent infections. Acquired renal cystic disease • Formation of many bilateral cortical and medullary cysts in individuals with end-stage renal disease undergoing dialysis. An essential supplementary characteristic is the heightened prevalence of kidney tumors, which are frequently of the papillary variety and may be many.
Autosomal dominant polycystic kidney disease The predominant cystic renal disease, occurring in approximately 1 in 500 individuals, is a primary contributor to end-stage renal failure. • Ninety percent of cases result from a hereditary mutation in the PKD1 gene located on chromosome 16. Deficiencies in the functionality of the PKD1 protein result in cystic alterations in renal tubules and the degeneration of normal renal tissue. Most patients often present in adulthood, generally between the ages of 30 and 40, exhibiting hypertension, flank pain, and hematuria. The kidneys are significantly enlarged, exceeding 2 kg in weight, and are entirely substituted by cysts. Histologically, both kidneys have many cysts lined by flattened cuboidal epithelium, with minimal intervening normal renal parenchyma. Extra-renal symptoms encompass hepatic cysts and berry aneurysms. Subarachnoid hemorrhage resulting from a ruptured berry aneurysm is a severe consequence of adult polycystic kidney disease (APKD) and a prevalent cause of abrupt mortality.
Autosomal recessive polycystic kidney disease • A rare, hereditary condition resulting in bilateral polycystic kidneys and congenital hepatic fibrosis. • Induced by mutations in the PKHD1 gene located on chromosome 6p, which encodes the protein fibrocystin, a constituent of the cilia on collecting duct epithelial cells. • Morphologically, the kidneys are enlarged and exhibit numerous cysts. • Histologically, the cysts are bordered by flattened cuboidal epithelium. • Severe cases result in neonatal mortality due to pulmonary hypoplasia. • Patients with milder renal illness who survive into childhood experience congenital hepatic fibrosis and problems associated with portal hypertension.
Medullary cystic disease • Congenital occurrence of several cysts at the corticomedullary junction, ranging in size from less than 1 mm to 2 cm. The pediatric condition, juvenile nephronophthisis, is inherited in an autosomal recessive manner and is linked to mutations in the NPH1, NPH2, or NPH3 genes. The adult condition, uraemic medullary cystic disease, is inherited in an autosomal dominant manner and is linked to mutations in the MCDK1 or MCDK2 genes.
Medullary sponge kidney • Characterized by an abnormal expansion of the collecting ducts, resulting in microcystic alterations of the renal medullae and papillae accompanied by calcification. • This condition typically manifests in adulthood with recurrent infections. Acquired renal cystic disease • Formation of many bilateral cortical and medullary cysts in individuals with end-stage renal disease undergoing dialysis. An essential supplementary characteristic is the heightened prevalence of kidney tumors, which are frequently of the papillary variety and may be many.
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