Lecture 14 - Cystic and Congenital Diseases of Kidney Flashcards
Renal agenesis is considered a structural disease. If it occurs unilaterally, it can result in compensatory _______ of the one that formed, which may lead to glomerulosclerosis and CKD.
Hypertrophy
Renal Hypoplasia is common among ____ ____-____ infants –> increased risk for CKD.
Low birth-weight
______ Kidney is the most common congenital disorder of the kidneys and most commonly involves (90%) the lower poles of the kidneys. Patients often present with frequent _____ and Abdominal pain.
Horseshoe Kidney
Frequent UTIs
Autosomal Dominant PKD (ADPKD) typically arises in _____ (adults or children?). Cysts appear ______ (unilaterally or bilaterally?) and destroy the kidney parenchyma, leading to renal failure.
Concomitant cysts in the ____ occur in about 40% of patients, while intracranial cysts and berry aneurysms occur in about 4-10% patients, leading to subarachnoid hemorrhage and death.
Adults
Bilaterally
Liver
ADPKD results from mutations in either PKD-1 or PKD-2. _____ accounts for 85% of cases, and this gene is located on chromosome ____. _____ is located on chromosome ____, and mutations here result in less severe disease phenotype. Both mutations result in abnormal function of tubular _____ and altered ____ flux.
PKD-1
Chromosome 16
PKD-2
Chromosome 4
Cilia
Ca++ flux
Autosomal Recessive PKD (ARPKD) is less common than ADPKD, and most cases are identified at ____ or in utero. The disease results from a mutation in the PKHD1 gene on chromosome ____. It encodes ______ which is localized to the cilia cells expressed in fetal and adult kidneys, liver, and pancreas.
Birth
Chromosome 16
Fibrocystin
Patients with ARPKD typically present at birth with enlarged kidneys, ______ facies (blunted nose and basically scrunched ears), Oligohydramnios, ______ hypoplasia, and spine and limb deformities.
What is the major cause of death in these patients?
Potter facies
Pulmonary hypoplasia
Most die from respiratory failure.
How do the cysts compare between ARPKD and ADPKD.
ARPKD –> smaller and tend to be confined within the kidney.
ADPKD –> larger cysts that bubble out of the surface of the kidney.
Medullary Sponge Kidney is characterized by multiple cystic dilations of the _____ _____ in the medulla. Most patients are asymptomatic, so the disease is typically discovered incidentally. Patients may present with _______ or UTI, and they rarely progress to CKD or renal failure.
Collecting Duct
Nephrolithiasis (kidney stones) or UTI
Nephronophthisis is the most common genetic cause of ______ in children and young adults. Cysts are concentrated at the _______ junction. Like the other cystic kidney diseases, this arises from mutations in cilia.
How does the basement membrane of distal tubules appear on histology in Nephronophthisis?
ESRD (end-stage renal disease)
Corticomedullary junction
It appears thickened and split, with concomitant interstitial fibrosis.
Patients with Nephronophthisis can progress to ESRD within 5-10 years. They may initially present with polyuria, polydipsia, ____ wasting, ______ acidosis, or bed wetting.
Sodium wasting
Tubular acidosis
Though histologically similar to Nephronophthisis, Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD) is distinct in that it is, in fact autosomal dominant, leads to slow progression of ______ in adults, and may or may not present with _____ cysts.
ESRD
Medullary
Multicystic renal displasia is the most common cystic renal kidney disease in ______ (children or adults?). It can affect one or both of the kidneys (uni- or bilateral), and is most often associated with a lower ____ ____ anomaly (i.e Uteropelvic obstruction or Ureteral agenesis/atresia).
The defining features are the multiple cysts with _______ (mature or immature?) collecting ducts and mesenchyme.
Children
Lower Urinary Tract anomaly
Immature (so basically under-developed)
Dialysis-Acquired Cystic Disease occurs as a result of prolonged dialysis. The cysts are present in BOTH the cortex and Medulla and often contain ____ ____ which can form secondary obstructions. These patients face a 12-18 fold increased risk for ____, which will develop in about 7% of dialyzed patients.
Calcium Oxalate
RCC
In children, the most common cause of Urinary tract obstruction is congential _______. In Adults, the condition is mostly acquired and commonly results from _____ _____. These obstructions can lead to ______, which describes dilation of the renal calyces that results in renal atrophy –> this impairs the concentrating ability of the ______ and a decrease in the GFR.
Malformation (e.g. urethral valve)
Kidney Stones
Hydronephrosis
Tubules
