Congenital renal disorders Flashcards
Cause of Potter syndrome/sequence
Oligohydramnios –> possible due to kidney agenesis
Features of Potter syndrome/sequence
Low set ears
Receding chin
Beak-like nose
Pulmonary hypoplasia
Complication that develops later in those born with unilateral kidney agenesis
Progressive glomerular sclerosis
Complications at higher risk in horseshoe kidney
Obstruction
Pyelonephritis
Cause of cystic/multicystic renal dysplasia
Abnormality of metanephric differentiation
Histologic features of cystic/multicystic renal dysplasia
Persistence of abnormal structures –> undifferentiated mesenchyme, cartilage, and immature collecting ducts
Abnormal lobar organization
Genes affected in ADPKD
PKD1/polycystin-1 on chromosome 16p
PKD2/polycystin-2 on chromosome 4q
Result of mutations in ADPKD
Altered mechanosensation by tubular cilia and altered calcium flux –> results in altered tubular epithelial growth and differentiation leading to cyst formation
Hereditary condition with bilaterally enlarged kidneys and mass of cysts (3-4 cms in diameter) filled with clear or turbid blood-tinged fluid. The cysts arise in tubules throughout the nephron.
ADPKD
Clinical features of ADPKD
Presents in 4-5th decade –> pain, renal colic, dragging sensation, hematuria, proteinuria, and HTN
Other situations with cysts in ADPKD
Polycystic liver disease (40%)
Spleen, pancreas, and lungs
Intracranial berry aneurysms (death in 10-15%)
Inheritance of childhood PKD
Autosomal recessive
Gene mutated in childhood PKD
PKHD1 - fibrocystin
Hereditary condition enlarged, smooth kidneys. Cut surface reveals sponge-like texture with multiple cysts. All the cysts originate from collecting tubules.
Childhood PKD
Non-renal involvement in childhood PKD
Liver cysts –> congenital hepatic fibrosis
Acquired form of cystic kidney disease
Dialysis associated with numerous cortical and medullary cysts that contain calcium oxalate crystals
Medullary cysts on excretory urography with hematuria, UTI, and recurrent renal stones. Benign.
Medullary sponge kidney
Inheritance of familial juvenile nephronophthisis
Autosomal recessive
Corticomedullary cysts and shrunken kidneys that causes progressive renal failure beginning in childhood. With salt wasting, polyuria, growth retardation, and anemia.
Familial juvenile nephronophthisis
Inheritance of adult-onset medullary cystic disease
Autosomal dominant
Corticomedullary cysts and shrunken kidneys that causes chronic renal failure beginning in adulthood. With salt wasting and polyuria.
Adult-onset medullary cystic disease
Single or multiple cysts in normal-sized kidneys, benign and possibly with microscopic hematuria.
Simple cysts
Cystic degeneration in end-stage kidney disease, associated with dialysis.
Acquired renal cystic disease
