Congenital Anomalies Of The Kidney🩺🚼 | Nephrology Lectures

[Music] congenital anomalies of the kidney embryology normal embryologic development of the kidney occurs in three stages of note in this discussion embryonic age begins at conception and not at the last menstrual period prros transient rudimentary and non-functioning system that begins in the fourth week of embryogenesis that is day 22 and disappears by the end of the fourth week that is day 28 degeneration of the prone nephros is required for normal kidney development Mone nephros is derived from the Intermediate mesoderm by Day 26 and by the fifth week of embryogenesis develops into 20 pair tubules that

produce small amounts of urine the misone nephros ultimately fuses with the CLA and contributes to the formation of the urinary bladder and in the male the genital system is derived from the misone nephric ducts and some tubules metan nephos the metan nephos which is composed of the metan Meen Kim and ureteric Bud epithelium codal portion of the mphc duct is the last stage of renal development and forms the permanent kidney beginning at the fifth week of embryonic age the Metros is the final stage of renal development it is first detected at 5 to 6 weeks

of embryogenesis and begins to function at 6 to 10 weeks with urine production beginning at 9 weeks of embryonic age the metan nephros is initially positioned in the pelvis opposite the sacral somites and migrates from its codal position reaching its permanent location in the lumbar region at the e8th week of embryogenesis reciprocal interactions between the metan Meen Kim which is the metan nephros and the ureteric epithelium induce organogenesis resulting in the formation of the nephrons and collecting duct system of the metan system this process is dependent on the coexpression of a number of signaling and

transcription factors including but not limited to gal cell line derived neurotrophic factor and cognate receptor complex re or GF A1 osr1 e y A1 is L1 FX C1 Pax 2 Pax 8 ga3 L M1 gdf1 s a l L1 sx1 bmp4 and wt1 the bladder develops from a separate but continuous structure termed the urogenital sinus the bladder is present in fetuses with renal agenesis but is empty because of absent urine production Potter phenotype Potter phenotype is caused by the Potter sequence occurring sequentially bilateral renal agenesis leading to failure of fetal renal excretion leading to oligohydramnios

resulting in decreased amniotic fluid leading to multiple anomalies which is the Potter phenotype and early death the Potter sequence phenotype is associated with P for pulmonary hypoplasia o for oloh hydras t for Twisted face T again for Twisted skin e for extremity defects R for renal failure in utero oloh hydrus fails to provide the fetus with adequate amniotic fluid necessary to mature the lungs leading to pulmonary hypoplasia with severe respiratory failure and early neonatal death common deformations ofs oberved in Potter sequence phenotype include facial deformities for example Potter faes flat and pared Beak nose low

set ears microna limb deformities for example rocker bottom feet talpes equinovarus oligohydramnios allows contact of fetal skin with amnon creating amnon nodm which Are nodules of fetal quas epithelial cells on the placental surface maternal abdominal ultrasonography May detect bilateral renal agenesis during the prenatal period Potter's phenotype can also be caused by autosomal recessive polycystic kidney disease posterior urethal valves horeshoe kidneys horseshoe kidneys occur when the right and left kidneys fuse 90% are fused at the inferior pole whereas 10% are fused at the superior pole Haro kidneys become trapped under the inferior mesentric arteries at vertebral

level L3 patients with horseshoe kidneys have normal renal function horseshoe kidneys may compress ureters potentially causing ureteropelvic Junction obstruction hydron nephrosis es renal stones and infection horseshoe kidney is associated with the following chromosomal aneuploid syndromes Edward syndrome Down syndrome patau syndrome Turner syndrome horseshoe kidney can rarely be associated with renal cancer especially wilm's tumor ectopic kidneys are most commonly found in the pelvis ectopic the kidneys can be located anywhere along the path of their Ascent from where they first form in the pelvis to where the kidneys normally lie within the abdomen in the retrop peronal

renal fosa level of second Lumar vertebra the Ural pelvic Junction is the last portion of the developing urer to caly thus the ureteral pelvic Junction is the most common site of obstruction during Fe kenesis leading to hydron nephrosis multicystic dysplastic kidney multicystic dysplastic kidney occurs due to an abnormal interaction between ureteric bud and the metric Meen multicystic dysplastic kidney renders the affected kidney nonfunctional gross examination of a multicystic dysplastic kidney shows a kidney composed osed of macroscopic cysts compressing dysplastic renal parenchima composed primarily of connective tissue most patients with multicystic dysplastic kidney have unilateral disease

which is asymptomatic patients have compensatory hypertrophy of the contralateral or nonplastic kidney patients with bilateral multicystic dysplastic kidneys have no renal function resulting in oligo hydras and Potter syndrome bilateral multicystic dysplastic kidney disease is incompatible with life multicystic dysplastic kidney is often associated with an atretic proximal ureter multicystic dysplastic kidney is most often diagnosed via prenatal ultrasound duplex collect cting systems duplex collecting system is a condition in which two ureters drain a single kidney the most common congenital anomaly of the urinary tract duplex collecting system can arise via two etiologies the ureteric bud the embryologic

origin of the urer can bifurcate before it enters the metan blastema alternatively duplex collecting system can arise when two ureteric buds reach and interact with metan blastema duplex collecting system is associated with vesico Ural reflux Ural obstruction often due to a Ural seal urinary tract infections duplex collecting system is most often diagnosed via prenal ultrasound which often shows hydron nephrosis of the affected kidney due to vesico ureteric reflux if a duplex collecting system isn't diagnosed in utero children can present with recurrent urinary tract infections conal solitary functioning kidney congenital solitary functioning kidney describes patients that

are born with a single functioning kidney most patients are asymptomatic High hypertrophy of functioning kidney may be seen on Imaging anatomical congenital solitary kidney is the absence of one kidney due to renal a Genesis functional congenital solitary kidney is a non-functional kidney due to reasons such as renal aplasia severe renal dysplasia or hypoplasia a solitary kidney is usually hypertrophic to compensate for the contralateral kidney there will be increased risk of hypertension renal insufficiency and progression to endstage renal disease renal agenesis it refers to a congenital absence of the kidney and urer which may either be

unilateral or bilateral renal hypoplasia can also lead to absence of kidney and is commonly referred to as renal agenesis in the absence of in uteral intervention bilateral renal a Genesis is always fatal to the newborn period the diagnosis of bilateral renal agenesis is based upon sonographic nonvisualization of the fetal kidneys ureters and bladder accompanied by oloh hydras usually after 16 weeks of gestation unilateral renal agenesis is more difficult to diagnose and depends upon accurately excluding the presence of a second kidney in the renal fosa or in an ectopic location renal agenesis is associated with an

increased risk of other structural abnormalities copy number variants single Gene disorders and chromosomal abnormalities for preg encies with unilateral renal a Genesis a thorough Examination for other structural defects especially of the reproductive tract should be performed if additional anomalies are detected there is an increased risk of chromosomal abnormality amniocenteses to determine the fetal kot type should be offered there are no fetal indications for early delivery most cases of bilateral renal agenesis are sporadic the risk of recurrence of bilateral renal agenesis is about 3 to 6% but may reach up to 8% in cases with multiple

congenital abnormalities approximately 9 to 14% of first-degree relatives of patients with bilateral renal agenesis or dis Genesis have renal abnormalities clinicians suggest performing renal ultrasound examination to screen parents and siblings of infants born with a Genesis or dis Genesis of both kidneys or with a Genesis of one kidney and dis Genesis of the other given the heritable nature of these defects the prognosis for patients with unilateral renal agenesis is reported as excellent with a survival rate similar to that of age and sex matched controls however some data suggests an increased risk of renal dysfunction proteinuria

and hypertension and a high risk for dialysis [Music] congenital anomalies of the kidney embryology normal embryologic development of the kidney occurs in three stages of note in this discussion embryonic age begins at conception and not at the last menstrual period prros transient rudimentary and non-functioning system that begins in the fourth week of embryogenesis that is day 22 and disappears by the end of the fourth week that is day 28 degeneration of the prone nephros is required for normal kidney development Mone nephros is derived from the Intermediate mesoderm by Day 26 and by the fifth week

of embryogenesis develops into 20 pair tubules that produce small amounts of urine the misone nephros ultimately fuses with the CLA and contributes to the formation of the urinary bladder and in the male the genital system is derived from the misone nephric ducts and some tubules metan nephos the metan nephos which is composed of the metan Meen Kim and ureteric Bud epithelium codal portion of the mphc duct is the last stage of renal development and forms the permanent kidney beginning at the fifth week of embryonic age the Metros is the final stage of renal development it

is first detected at 5 to 6 weeks of embryogenesis and begins to function at 6 to 10 weeks with urine production beginning at 9 weeks of embryonic age the metan nephros is initially positioned in the pelvis opposite the sacral somites and migrates from its codal position reaching its permanent location in the lumbar region at the e8th week of embryogenesis reciprocal interactions between the metan Meen Kim which is the metan nephros and the ureteric epithelium induce organogenesis resulting in the formation of the nephrons and collecting duct system of the metan system this process is dependent on

the coexpression of a number of signaling and transcription factors including but not limited to gal cell line derived neurotrophic factor and cognate receptor complex re or GF A1 osr1 e y A1 is L1 FX C1 Pax 2 Pax 8 ga3 L M1 gdf1 s a l L1 sx1 bmp4 and wt1 the bladder develops from a separate but continuous structure termed the urogenital sinus the bladder is present in fetuses with renal agenesis but is empty because of absent urine production Potter phenotype Potter phenotype is caused by the Potter sequence occurring sequentially bilateral renal agenesis leading to

failure of fetal renal excretion leading to oligohydramnios resulting in decreased amniotic fluid leading to multiple anomalies which is the Potter phenotype and early death the Potter sequence phenotype is associated with P for pulmonary hypoplasia o for oloh hydras t for Twisted face T again for Twisted skin e for extremity defects R for renal failure in utero oloh hydrus fails to provide the fetus with adequate amniotic fluid necessary to mature the lungs leading to pulmonary hypoplasia with severe respiratory failure and early neonatal death common deformations ofs oberved in Potter sequence phenotype include facial deformities for example

Potter faes flat and pared Beak nose low set ears microna limb deformities for example rocker bottom feet talpes equinovarus oligohydramnios allows contact of fetal skin with amnon creating amnon nodm which Are nodules of fetal quas epithelial cells on the placental surface maternal abdominal ultrasonography May detect bilateral renal agenesis during the prenatal period Potter's phenotype can also be caused by autosomal recessive polycystic kidney disease posterior urethal valves horeshoe kidneys horseshoe kidneys occur when the right and left kidneys fuse 90% are fused at the inferior pole whereas 10% are fused at the superior pole Haro kidneys become

trapped under the inferior mesentric arteries at vertebral level L3 patients with horseshoe kidneys have normal renal function horseshoe kidneys may compress ureters potentially causing ureteropelvic Junction obstruction hydron nephrosis es renal stones and infection horseshoe kidney is associated with the following chromosomal aneuploid syndromes Edward syndrome Down syndrome patau syndrome Turner syndrome horseshoe kidney can rarely be associated with renal cancer especially wilm's tumor ectopic kidneys are most commonly found in the pelvis ectopic the kidneys can be located anywhere along the path of their Ascent from where they first form in the pelvis to where the kidneys normally

lie within the abdomen in the retrop peronal renal fosa level of second Lumar vertebra the Ural pelvic Junction is the last portion of the developing urer to caly thus the ureteral pelvic Junction is the most common site of obstruction during Fe kenesis leading to hydron nephrosis multicystic dysplastic kidney multicystic dysplastic kidney occurs due to an abnormal interaction between ureteric bud and the metric Meen multicystic dysplastic kidney renders the affected kidney nonfunctional gross examination of a multicystic dysplastic kidney shows a kidney composed osed of macroscopic cysts compressing dysplastic renal parenchima composed primarily of connective tissue most

patients with multicystic dysplastic kidney have unilateral disease which is asymptomatic patients have compensatory hypertrophy of the contralateral or nonplastic kidney patients with bilateral multicystic dysplastic kidneys have no renal function resulting in oligo hydras and Potter syndrome bilateral multicystic dysplastic kidney disease is incompatible with life multicystic dysplastic kidney is often associated with an atretic proximal ureter multicystic dysplastic kidney is most often diagnosed via prenatal ultrasound duplex collect cting systems duplex collecting system is a condition in which two ureters drain a single kidney the most common congenital anomaly of the urinary tract duplex collecting system can arise

via two etiologies the ureteric bud the embryologic origin of the urer can bifurcate before it enters the metan blastema alternatively duplex collecting system can arise when two ureteric buds reach and interact with metan blastema duplex collecting system is associated with vesico Ural reflux Ural obstruction often due to a Ural seal urinary tract infections duplex collecting system is most often diagnosed via prenal ultrasound which often shows hydron nephrosis of the affected kidney due to vesico ureteric reflux if a duplex collecting system isn't diagnosed in utero children can present with recurrent urinary tract infections conal solitary functioning

kidney congenital solitary functioning kidney describes patients that are born with a single functioning kidney most patients are asymptomatic High hypertrophy of functioning kidney may be seen on Imaging anatomical congenital solitary kidney is the absence of one kidney due to renal a Genesis functional congenital solitary kidney is a non-functional kidney due to reasons such as renal aplasia severe renal dysplasia or hypoplasia a solitary kidney is usually hypertrophic to compensate for the contralateral kidney there will be increased risk of hypertension renal insufficiency and progression to endstage renal disease renal agenesis it refers to a congenital absence of

the kidney and urer which may either be unilateral or bilateral renal hypoplasia can also lead to absence of kidney and is commonly referred to as renal agenesis in the absence of in uteral intervention bilateral renal a Genesis is always fatal to the newborn period the diagnosis of bilateral renal agenesis is based upon sonographic nonvisualization of the fetal kidneys ureters and bladder accompanied by oloh hydras usually after 16 weeks of gestation unilateral renal agenesis is more difficult to diagnose and depends upon accurately excluding the presence of a second kidney in the renal fosa or in an

ectopic location renal agenesis is associated with an increased risk of other structural abnormalities copy number variants single Gene disorders and chromosomal abnormalities for preg encies with unilateral renal a Genesis a thorough Examination for other structural defects especially of the reproductive tract should be performed if additional anomalies are detected there is an increased risk of chromosomal abnormality amniocenteses to determine the fetal kot type should be offered there are no fetal indications for early delivery most cases of bilateral renal agenesis are sporadic the risk of recurrence of bilateral renal agenesis is about 3 to 6% but may

reach up to 8% in cases with multiple congenital abnormalities approximately 9 to 14% of first-degree relatives of patients with bilateral renal agenesis or dis Genesis have renal abnormalities clinicians suggest performing renal ultrasound examination to screen parents and siblings of infants born with a Genesis or dis Genesis of both kidneys or with a Genesis of one kidney and dis Genesis of the other given the heritable nature of these defects the prognosis for patients with unilateral renal agenesis is reported as excellent with a survival rate similar to that of age and sex matched controls however some data

suggests an increased risk of renal dysfunction proteinuria and hypertension and a high risk for dialysis