Robbins, Chapter 20, Congenital Defects and Neoplasia Flashcards
A newborn with bilateral agenesis of the kidney, think what
Incompatible with life
Above pelvic brim or within the pelvis, think what congenital disorder?
Ectopic localization
Where is the renal angle?
Between the lower border of the 12th rib and lateral border of erector spinae muscle
What am I?
Hereditary disorder characterized by multiple expanding cysts of both kidneys that ULTIMATELY destroy renal parenchyma, taking over the entire cortex, and result in renal failure (ultimately, unless patient dies of something else first).
Am I universally uni or bilateral?
Autosomal Dominant (adult) Polycystic Kidney Disease ADPKD
Bilateral
PKD1 and PKD2 genes: What overall disease? What chromosomes, respectively? What protein does each code for? Which is more aggressive, faster onset, and worse prognosis/higher likelihood of developing ESRF?
ADPKD
PKD1 - Polycystin 1, an integral membrane glycoprotein, ch16
PKD2 - Polycystin 2, a Ca2+ permeable cation channel, ch4 (ADPKD disrupts regulation of intracellular Ca2+.
PKD1 has worse prognosis than PKD2 - more aggressive, faster onset, more likely to develop ESRF
What renal damage do cysts cause?
In ADPKD, are cysts always intrarenal? If extrarenal, where and what percentage of pts have cysts here?
Glomerular, vascular damage
Interstitial inflammation/fibrosis
No - they can be found in the LIVER (40% have here), lungs, or spleen with mitral valve prolapse in the heart (25%).
What am I?
May be asymptomatic until renal insufficiency announces presence.
Flank pain may be indicative of hemorrhage into cysts.
Hematuria is sometimes found with large, palpable abdominal masses.
Associated with African American, M>F, and concomitant HTN.
82% prevalence of diverticular disease of colon in patients with this.
ADPKD
Subarachnoid hemorrhage secondary to intracranial berry aneurysms account for 10% of deaths in what hereditary kidney disease?
How many
ADPKD
PKD1 chromosome# on childhood ARPKD v. adult ADPKD
Are signs of renal failure present in ARPKD and/or ADPKD?
ARPKD - ch6, coding for fibrocystin.
ADPKD - ch16, coding for Polycystin 1.
ARPKD has obvious renal failure, but ADPKD may be asymptomatic.
What am I?
Slighly enlarged kidneys exhibiting numerous small (1-2mm) linear/radial arrayed cysts derived from dilated collecting ducts. Elongated cysts along cortex and medulla, perpendicular to cortical surface. BILATERAL.
What age group?
Good prognosis?
ARPKD
Children!
Bad prognosis - death.
What are the four subtypes of ARPKD?
Which is most common?
Which has most (and least) % of cystic CD?
Time for survival.
Which is associated with LIVER dysfunction (portal HTN, systemic HTN, HEPATIC FIBROSIS)?
Which is associated with PROGRESSIVE hepatic fibrosis and esophageal varicies?
(1) Perinatal - Most common 90% CD cystic (2) Neonatal 60% CD cystic (3) Infantile - hepatic fibrosis, portal HTN, systemic HTN 20% CD cystic (4) Juvenile - PROGRESSIVE hepatic fibrosis with esophageal varicies 10% CD cystic
Time for survival of the four subtypes of ARPKD - which is only a few hours (and death due to what?). Which survives months (death due to what?), which die in early childhood?
(1) Perinatal - live hours, death due to hypoplastic lungs
(2) Neonatal - live for months, death due to renal failure
(3) Infantile - 90% survive neonatal, but almost all die in early childhood
What am I?
Obvious renal failure in all cases. survivors develop congenital hepatic fibrosis with HTN and SM.
ARPKD
What are the two diseases of the renal medulla - the Medullary Cystic Diseases? Which is more, which is less severe?
(1) Medullary sponge kidney - less severe (innocuous)
2) Nephronophthisis cystic disease - more severe (malicious
What am I?
Occur in adults, innocuous medullary cystic disease. Found on radiograph. Person has increased risk for STONES, hematuria, infection. Cysts consist of cuboidal epithelium from collecting tubules.
Medullary Sponge Kidney
What am I?
The person will present with POLYURIA and POLYDYPSIA.
5-10 years later, the person will have renal failure (due to what?). In children patients, family history has unexplained renal failure - mutations in MCKD1 and MCKD2 (adult) NPHP (kid) are identified as cause.
MEDULLARY CYSTS LOCALIZED TO THE CORTICOMEDULLARY JUNCTION and medulla.
Nephronophthisis-Medullary Cystic Disease
While medullary cysts are present, cortical tubulointerstitial damage is the cause of renal insufficiency.
Why are the first signs of Nephronophthisis - polyuria and polydipsia? What does it mean the kidney cannot do?
It reflects the person’s inability to concentrate urine.
Tubular disorders all generally initially present with what, clinically?
Polyuria and polydipsia
What am I?
Caused by ESRD with PROLONGED DIALYSIS. Cortex and Medulla may have numerous, small cysts that contain clear fluid. RCC associated with this.
Acquired (Dialysis Associated) Cystic Disease
How can you tell the difference between a renal cyst and tumor on ultrasonography?
Renal cysts are smooth and avascular, giving fluid signals.
Renal tumors are more irregular and solid.
What am I?
Kidneys normal sized.
RENAL FUNCTION IS NOT AFFECTED.
Usually single, SMALL, on renal CORTEX surface, filled with clear fluid, common post-mortem finding.
Person may have sudden distention and pain, if HEMORRHAGE (possibly DUE TO TRAUMA) into cyst.
Simple (Localized) Renal Cyst
What am I?
Extremely large kidneys (mass in the PERINATAL period, oligohydraminos!). Absent ureter, ureteropelvic obstruction or other lower GU anomalies.
Multiple, large cysts that are surrounded by undifferentiated mesenchyme and immature collecting ducts. Disorganzied lobar architecture.
Non-familial.
Multicystic Renal Dysplasia
What type of Urinary Tract Obstruction does this describe?
Pain from rapid dilation of area immediately proximal.
Stones cause colic from ureter/capsule distention.
Prostate causes bladder symptoms.
Acute Obstruction
What type of Urinary Tract Obstruction does this describe?
Asymptomatic leading to preventable hydronephrosis, atrophy, and loss of renal function.
Identify with ultrasonography so damage doesn’t occur.
Unilateral or Incomplete Obstruction
What type of Urinary Tract Obstruction does this describe?
Person presents with inability to concentrate urine reflected by polyuria and nocturia. Result of tubular atrophy and scarring associated with tubular interstitial nephritis.
Bilateral Partial Obstruction
