Malformation congenital in

children
Dr. Yanti Susianti SpA

Congenital Anomalies

A.Unilateral renal
agenesis.B.Right side, pelvic
kidney; left side, divided kidney
with a bifid ureter.C.Right side,
malrotation of the kidney; left
side, bifid ureter and double
kidney.D.Crossed renal ectopia.
The left kidney crossed to the
right side and fused with the right
kidney.E.'Pancake' or discoid
kidney resulting from fusion of
the kidneys while they were in
the pelvis.F.Supernumerary left
kidney resulting from the
development of two ureteric
buds. (Modified from Moore KL,
Persaud TVN. The Developing
Human. Clinically Oriented
Embryology (6th ed).
Philadelphia: WB Saunders, 1998;
with permission.)

Agenesis kidney
Kidney unilateral or bilateral
Epidemiology: unilateral 1: 1000 birth,
bilateral: 1: 3000-10.000 birth
With syndrome: Klinefelter, Poland
Died < 4 hour
Treatment agenesis kidney unilateral:
prevention for infection
Complication: hypertension, insufficiency
kidney, focal glomerulonephritis

Horshoe kidney
Horseshoe Kidney
occurs during fetal
development
1:500 children
The kidneys of fetus
rise from the pelvic
area and fuse
together at the
lower end, forming
"U" shape.
Male > female

Symptoms
> 70% of patients, both of children
and adults, with this disorder will
experience symptoms.
Urinary tract infection is a common
symptom
Kidney stone cause urinary obstruction
Cancerous tumors
Hydronephrosis

Diagnosis
An intravenous pyelogram :to
evaluate the secretory ability of your
kidneys, the structure of the kidneys.

Polycystic kidney disease

(Potter II)
An autosomal
dominant trait.
If one parent
carries the gene
the children have a
50% chance of
developing the
disorder.

PKD
Mortality depend on kidney function
Always hypertension failure kidney
Diagnosis: mass bilateral in abdomen,
hypertension, hepatomegaly, prolapsus
mitral valve, brain aneurysm, cyst hepar
USG abdomen: kidney cyst, multiple
Echocardiography: hyperthrophy left
ventricle

PKD Autosomal Resesif

Appears in infancy or childhood.
1:6.000 until 1: 55.000 birth
This type tends to be very serious
and progresses rapidly, resulting in
end-stage kidney failure causing
death in infancy or childhood.
Symptoms: progressif kidney >>

Multicystic kidney dysplasia

(MKD)
Multiple Cysts
Unilateral 1: 2.400
until 1: 4.300 birth
Laki-laki:
perempuan= 1: 1,48
Failure to develop
mesonephric duct,
malformation ureter,
or degenration from
ureter

Symptoms
Massa intra abdomen unilateral,
asimtomatik
If MKD bilateral : oligohydramnion, lung
hypoplasia, and potter facies (ec. Ear low,
short nose, micrognatia)
Pysical exam: hypertension, urinary tract
infection, mass intra abdomen, mobile,
irregular, hard
USG : multiple cyst
Management: lower salt, lower protein,
nefrektomi, if VUR kontralateral + antibiotic
prophylaxis

Ectopia Vesica
part of theurinary bladderis present outside the
body.
Rare, 1:10,000 to 50,000 live births
Male:female ratio2:1.
The diagnosis involves a spectrum of anomalies of
the lower abdominal wall, bladder, anterior bony
pelvis, and external genitalia.
Failure of the abdominal wall to close during fetal
development and results in protrusion of the anterior
bladder wall through the lower abdominal wall.
Treatment is with surgical correction of the defect,
Compication: urinary tract infections and urinary
incontinence

Typical manifestation
Bladder everted through a midline lower
abdominal wall defect
widening of thepubic symphysis
epispadiasin males (dorsal cleft in the penis,
exposing the urethral mucosa)
the anus and vagina appear anteriorly
displaced
the testicles may beundescended.
bifidclitorisin females, with a short "urethral
strip" indistinguishable from bladder mucosa.

Hypospadia
A birth defect of the
penis involving the
urethra (the transport
tube leading from the
bladder to discharge
urine outside the
body).
The urethra normally
travels in the male
through the full length
of the penis so that the
stream of urine comes
from the urethral
opening at the tip of
the penis.

 Hypospadias is relatively common

1 :500 newborn boys.
Hypospadias can occur as an isolated
birth defect in an otherwise normal
child or it can be part of a multiple
malformation syndrome
Management: surgery

Epispadia
Like hypospadia,
urethra upper
penis

Wilms tumor
(Nephroblastoma)

Tumor kidney >90%

Incidence 3,5 years old
>90% unilateral
Etiology?
Stadium I-V
Tumor mass intra abdomen
USG abdomen or CT Scan
Treatment: surgery, radiotherapy,
chemotherapy