Chapter 16 Flashcards
a cancer of the kidneys that usually affects children by 5 years of age but may also occur in the fetus.
Wilms Tumor
Wilms tumor is due to mutations in the
WT1 gene on 11p13
characterized by Wilms tumor, aniridia, gonadoblastomas [tumors of the go- nads], and mental retardation [intellectual dis- ability].
WAGR syndrome
constellation of defects is due to a microdeletion in chromosome 11 that includes both the PAX6 [aniridia] and WT1 genes that are only 700 kb apart.
WAGR Syndrome
consists of renal failure, ambiguous genitalia, and Wilms tumor
Denys-Drash syndrome
are a spectrum of severe malformations that represent the primary diseases requiring dialysis and transplantation in the first years of life.
Renal dysplasias and agenesis
An abnormality in which numerous ducts are surrounded by undifferentiated cells. Nephrons fail to develop, and the ureteric bud fails to branch, so that the collecting ducts never form.
Multicystic dysplastic kidney
may also arise if the interaction between the metanephric mesoderm and the ureteric bud fails to occur.
Renal agenesis
produced by the metanephric mesoderm that produces branching and growth of the ureteric bud.
GDNF
True or False
mutations in genes that regulate GDNF expression of signaling may result in renal agenesis.
True
Genes responsible for Townes-Brock Syndrome
SALL1 ‘
Gene thatcauses renal coloboma syndrome
PAX2
Mutations in what gene results in branchiootorenal syndrome.
EYA1
characterized by anuria, oligohydramnios [decreased volume of amniotic fluid, and hypoplastic lungs secondary to the oligohydramnios.
Potter sequence
A flattened face
Potter facies
numerous cysts form. It may be inherited as an autosomal recessive or autosomal dominant disorder or may be caused by other factors.
Congenital polycystic kidney disease
a progressive disorder in which cysts form from collecting ducts. The kidneys become very large, and renal failure occurs in infancy or childhood.
Autosomal recessive polycystic kidney disease
cysts form from all segments of the nephron and usually do not cause renal failure until adulthood.
Autosomal dominant polycystic kidney disease
More common
disease linked to mutations in genes that encode proteins localized in cilia and that are important for ciliary function
Ciliopathies
characterized by renal cysts, obesity, intellectual disability, and limb defects
Bardet-Biedl syndrome
characterized by renal cysts, hydrocephalus, microph- thalmia, cleft palate, absence of the olfactory tract, and polydactyly.
Meckel-gruber syndrome
Kidneys remaining in the pelvis close to the common iliac artery
Pelvic kidney
kidneys are pushed so close together during their passage through the arterial fork, that the lower poles fuse, forming a
Horseshoe kidney
they derive from the persistence of embryonic vessels that formed during ascent of the kidneys. These arteries usually arise from the aorta and enter the superior or inferior poles of the kidneys
Accessory renal arteries
the lumen of the intraembryonic portion of the allantois persists
Urachal fistula
If only a local area of the allantois persists, secretory activity of its lining resulting in a cystic dilation,
Urachal cyst
When the lumen in the upper part persists, it forms a
Urachal sinus
a ventral body wall defect in which the bladder mucosa is exposed. Epispadias is a constant feature
Exstrophy of the bladder
probably due to failure of the lateral body wall folds to close in the midline in the pelvic region
Exstrophy of the bladder
is a more severe ventral body wall defect in which progression and closure of the lateral body wall folds are disrupted to a greater degree than is observed in bladder exstrophy
Exstrophy of the cloaca
result from lack of fusion of the paramesonephric ducts in a local area orthroughout their normal line of fusion.
Duplications of the uterus
uterus is entirely double
Uterus didelphys
Uterus is only slightly indented in the middle
Uterus arcuatus
uterus has two horns entering a common vagina
Uterus bicornis
In patients with complete or partial atresia of one of the paramesonephric ducts, the rudimentary part lies as an appendage to the well-developed side. Because its lumen usually does not communicate with the vagina, complications are common
Uterus bicornis unicollus with 1 rudimentary horn
If the atresia involves both sides
Cervical atresia
If the sinovaginal bulbs fail to fuse or do not develop at all
Double vagina or vaginal atresia
a small vaginal pouch originating from the paramesonephric ducts usually surround the opening of the cervix
Atresia of the vagina
fusion of the urethral folds is incomplete, and abnormal openings of the urethra occur along the ventral aspect of the penis, usually near the glans, along the shaft, or near the base of the penis
Hypospadias
the urethral meatus is found on the dorsum of the penis
Epispadias
most often associated with exstrophy of the bladder and abnormal closure of the ventral body wall
Epispadias
occurs when there is insuf- ficient androgen stimulation for growth of the external genitalia.
Micropenis
Micropenis is usually caused by
primary hypogonadism or hypothalamic or pituitary dysfunction.
may occur if the genital tubercle splits.
Bifid penis or double penis
may appear as a large clitoris or a small penis.
Ambiguous genitalia
typically male with a small penis that is open on its ventral surface
Hypospadias
both ovarian and testicular tissues are present.
ovotesticular disorders of sex development [formerly called true hermaphrodism],
rare disorder in which there is no production of MIS. As a result, the genitalia are normal for a male, but there are varying degrees of remnants of the mUIIerian system, including a uterus and uterine tubes.
Isolated deficiency of mullerian inhibiting substance
vagina is present but usually short or poorly developed. The testes are frequently found in the inguinal or IabiaI regions, but spermato— genesis does not occur.
complete androgen insensitivity syndrome [CAIS]
In these individuals there is a lack of andro- gen receptors or failure of tissues to respond to receptor—dihydrotestosterone complexes. Consequently, androgens produced by the testes are ineffective in inducing differentiation of male genitalia. B
androgen insensitivity syndrome [AIS].
there is virilization to varying degrees,
Mild androgen insensitivity syndrome
ambiguous genitalia may be present, including clitoromegaly or a small penis with hypospadias. Testes are usually undescended in these cases.
partial androgen insensitivity syndrome [PAIS]
causes ambiguous genita- lia in males and is due to an inability to convert testosterone to dihydrotestosterone because of a lack of the reductase enzyme.
5-a-Reductase deficiency [5-ARD]
causes ambiguous genita- lia in males and is due to an inability to convert testosterone to dihydrotestosterone because of a lack of the reductase enzyme.
5-a-Reductase deficiency [5-ARD]
Patients may have decreased fertility, small testes, and decreased testosterone levels. Gynecomastia [enlarged breasts] is present in approximately 33% of affected individuals. Nondisjunction of the XX homologues is the most common causative factor.
Klinefelter syndrome
oocytes are absent, and the ovaries appear as streak gonads. Individuals are phenotypically female but may have a variety of chromosomal complements, including XY.
Gonadal dysgenesis
results from point mutations or deletions of the SRY gene. Individuals appear to be normal females but do not men- struate and do not develop secondary sexual characteristics at puberty.
XY female gonadal dysgenesis [Swyer syndrome]
They have a 45,X karyotype and short stature, high- arched palate, webbed neck, shield-like chest, cardiac and renal anomalies, and inverted nipples
Turner syndrome
intestinal loops may descend into the scrotum, causing a
Congenital indirect inguinal hernia
Sometimes, obliteration of this passageway is irregular,leaving small cysts along its course. Later, these cysts may secrete fluid, forming a
hydrocele of the testis and/or spermatic cord
one or both testes fail to descend.In such a case, portions of scend. The condition is called
Cryptochidism
