Malformation congenital in children

Dr. Yanti Susianti SpA

Congenital AnomaliesA.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 kidneyKidney unilateral or bilateralEpidemiology: unilateral 1: 1000 birth, bilateral: 1: 3000-10.000 birthWith syndrome: Klinefelter, PolandDied < 4 hourTreatment agenesis kidney unilateral: prevention for infectionComplication: hypertension, insufficiency kidney, focal glomerulonephritis

Horshoe kidneyHorseshoe Kidney occurs during fetal development 1:500 childrenThe 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 symptomKidney stone cause urinary obstructionCancerous tumorsHydronephrosis

DiagnosisAn 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.

PKDMortality depend on kidney functionAlways hypertension failure kidneyDiagnosis: mass bilateral in abdomen, hypertension, hepatomegaly, prolapsus mitral valve, brain aneurysm, cyst heparUSG abdomen: kidney cyst, multipleEchocardiography: hyperthrophy left ventricle

PKD Autosomal ResesifAppears in infancy or childhood. 1:6.000 until 1: 55.000 birthThis 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 CystsUnilateral 1: 2.400 until 1: 4.300 birthLaki-laki: perempuan= 1: 1,48Failure to develop mesonephric duct, malformation ureter, or degenration from ureter

SymptomsMassa intra abdomen unilateral, asimtomatikIf 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, hardUSG : multiple cystManagement: lower salt, lower protein, nefrektomi, if VUR kontralateral + antibiotic prophylaxis

Ectopia Vesicapart 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 defectwidening of thepubic symphysisepispadiasin males (dorsal cleft in the penis, exposing the urethral mucosa)the anus and vagina appear anteriorly displacedthe testicles may beundescended.bifidclitorisin females, with a short "urethral strip" indistinguishable from bladder mucosa.

HypospadiaA 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 common1 :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 syndromeManagement: surgery

EpispadiaLike hypospadia, urethra upper penis

Wilms tumor (Nephroblastoma)Tumor kidney >90%Incidence 3,5 years old>90% unilateralEtiology?Stadium I-VTumor mass intra abdomen USG abdomen or CT ScanTreatment: surgery, radiotherapy, chemotherapy