renal Flashcards
causes of Potter sequence (syndrome)
- ARPKD
- obstructive uropathy (posterior urethral valves)
- bilateral renal agenesis
- chronic placental insuficiency
Potter sequence (syndrome) - mnemonic
POTTER Pulmonary hypoplasia Oligohydramnios (trigger) Twisted face Twisted skin Extremitiy defects Renal failure (in utero)
MC congenital renal abnormality
Horseshoe kidney
Horseshoe kidney - defnition
interior poles of both kidneys fuse abnormally
Horseshoe kidney - location
As they ascend from pelvis during fetal development, horseshoe kidneys get trapped under inferior mesenteric artery and remain low in the abdomen
Horseshoe kidney is associated with
- hydronephrosis (eg. ureteropelvic junction)
- renal stones
- infection
- chromosomal aneuploidy syndromes (Turner syndrome, trisomies 13, 18, 21)
- renal cancer (rarely)
Unilateral renal agenesis - definition
complete absence of kidney and ureter
Multicystic dysplstic kidney - definiton
nonfuctonal kidney consisting of cysts and connective tissue
Duplex collecting system - mechanism/defintion
- Bifurcation of ureteric bud before it enters the metanephric blastema creates a Y-shaped bifid ureter.
- Duplex collecting system can alternatively occur through two ureteric buds reaching and interacting with metanephric blastema
Duplex collecting system - is strongly associated with
- vesicoulateral refelx
- ureteral obstruction
- high risk of UTIs
Congenital solitary functional kidney - clinical presentation
Majority asymptomatic with compensatory hypertrophy of contralateral kidney, but anomalies in contralateral kidney are common –> increased risk of rena failure later in life
Horseshoe Kidney - chromosomal aneuploidy syndromes
13, 18, 21
Wimls tumor (nephroblastoma) - mechanism
Loss of function mutation of tumor suppressor genes WT1 or WT2 on CH 11. MAY be part of several syndromes:
- WAGR complex
- Denys-Drash
- Beckwith-Wiedemann
WAGR complex - manifestation
Wilms tumor
Aniridia
Genitourinary malformations
mental Retardation/intellectual disability
Denys-Drash syndrome - manifestation
- Wilms tumor
- early onset nephrotic syndrome
- male pseudohermaphroditism
Beckwith-Wiedemann syndrome manifestations
- Wilms
- macroglossia
- organomegaly
- hemihypertrophy (one side of the body or a part of one side of the body is larger than the other)
Renal cyst disorders - types
- Autosomal dominant polycystic kidney disease (ADPKD)
- Autosomal recessive polycystic kidney disease (ARPKD)
- Medullary cystic disease
- Simple renal cysts
- complex renal cysts
Autosomal dominant polycystic kidney disease - gross appearance
Numerous cysts in cortex and medulla –> bilateral enlarged kidneys ultimately destroy kidney parenchyma
Autosomal dominant polycystic kidney disease - present with (clinical presentation)
- flank pain
- hematuria
- hypertension
- urinary infection
- Progressive renal failure (50%)
Autosomal dominant polycystic kidney disease - Mechanism
PKD1 mutation (85% - ch 16) PKD2 mutation (15% - ch 4)
Autosomal dominant polycystic kidney disease is associated with
- berry aneurysm
- mitral valver prolapse
- benign hepatic cysts
Autosomal recessive polycystic kidney disease is associated with
- congenital hepatic fibrosis
2. Significant oliguric renal failure in utero –> Potter sequence
Autosomal recessive polycystic kidney disease - concern beyond neonatal period include
- hypertension
- progressive renal insufficiency
- portal hypertension (from congenital hepatic fibrosis)
Medullary cystic disease - histology and mechanism
Inherited disease causing tubulointerstitial fibrosis and progressive renal insufficiency with inability to concentrate urine
Medullary cystic disease - gross
Medullary cysts usually not visualised
shrunken kidneys on ultrasound
Medullary cystic disease - US
shrunken kidneys
Medullary cystic disease - prognosis / complications
poor –> progressive renal insufficiency with inability to concentrate urine