Birth Defects in the Urinary Tract and Kidneys in Children

Overview

• Presenter: Victoria
• Focus: Birth defects in the urinary tract and kidneys in children.
• Components of the urinary tract: kidneys, ureters, urinary bladder, urethra.

Importance of Screening

• Anomalies can be detected antenatally.
• Early identification is crucial to prevent later complications (diagnosed late in childhood or adulthood).
• Abnormalities occur in approx. 1 out of 200 to 400 births.
• Undetected defects can damage developing organs and increase susceptibility to infections.

Anomalies of the Kidneys

Types of Anomalies:

1. Number Anomalies:

   • Agenesis: Complete absence of one or both kidneys.
   • Aplasia: Primitive form of one or both kidneys.
   • Unilateral Multicystic Dysplasia: One kidney develops normally; the other has irregular cysts.
   • Supernumerary Kidneys: More than two kidneys, may be fused.

2. Size Anomalies:

   • Hypoplasia: One kidney is significantly smaller.
   • Oligonephronia: Fewer nephrons than normal.
   • Fanconi Syndrome: Chronic tubular interstitial nephritis leading to renal failure.
   • Segmental Renal Hypoplasia: Areas of kidney don't develop normally, often leads to hypertension.

3. Position Anomalies:

   • Homolateral Ectopy: Kidney is on the same side but at a different level.
   • Heterolateral Ectopy: Kidney is on the opposite side.
   • Malrotation: High loom facing flank instead of spine.
   • Nephroptosis: Floating kidney, drops into the pelvis when standing.

4. Structural Anomalies:

   • Cyst formations (solitary, multilocular).
   • Polycystic Kidney Disease: Inherited disorder leading to chronic kidney failure.

5. Vascular Anomalies:

   • Additional renal arteries or stenosis/aneurysms.

Anomalies of the Calices, Pelvis, and Ureters

Caliceal Anomalies:

• Caliceal Diverticulum: Rare out-pouching; may cause stones.
• Megacalicosis: Dilated calices impairing kidney function.

Ureteral Anomalies:

• Hypoplastic/Hyperplastic Pyeloureteral Segment: Affects urine flow.
• Ureteral Duplication: Complete or partial duplication of ureters.
• Megaureter: Dilation due to mechanical or dynamic causes.

Anomalies of the Bladder

• Agenesis: Bladder does not form.
• Hypoplasia: Smaller than normal bladder.
• Duplicated Bladder: Two bladders draining into one or two urethras.
• Vesicovaginal Fistula: Connection between bladder and vagina.
• Bladder Exstrophy: Abdominal wall does not develop, exposing bladder.

Anomalies of the Urethra

• Urethral Anemia: Urethra does not form.
• Hypospadias: Urethra opening on the underside of the penis.
• Epispadias: Urethra opening on the dorsal side.

Diagnosis and Assessment

• Focus on patient history: urinary stream, UTIs, family history, polyuria, polydipsia, bedwetting.
• Diagnosis: Primarily antenatal via ultrasound; additional imaging techniques used.
• Possible chromosomal and genetic testing for familial anomalies.

Conclusion

• Importance of early detection and management in minimizing long-term complications.
• Encouragement to subscribe for more content.