Congenital Kidney Abnormalities

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Objetivos

1. Describe the major types of kidney diseases due to genetic abnormalities or congenital malformations.

2. Delineate the basics of normal renal embryology and the potential mechanisms responsible for abnormalities.

3. Discuss the presentation, evaluation, and management of polycystic kidney disease and various types of renal dysplasia.

4. Outline the need for comprehensive prenatal counseling and palliative care for fetuses and newborns with severe forms of renal disease

01/03/12 NeoReviews 2010;11;e226-e235 3

Malformaciones Renales Congénitas

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• ARPKD ocurre en 1:20.000 a 1:40.000 recién nacidos vivos

• Mutación en PKHD1 locus, cromosoma 6p21• Clínica: riñón poliquístico, fibrosis hepática

congénita, disgenesia biliar• Riñones grandes, ecogénicos• Casos severos, oligohidramnios a finales del

IIT, fenotipo Potter con hipoplasia pulmonar• Mortalidad temprana en ARPKD 25%; 40%

requieren ventilación pulmonar al nacer• A largo plazo 40% desarrollan enfermedad

renal crónica y más de 25% retardo del crecimiento

01/03/12 Nephrol Dial Transplant (2007) 22: 432–439 5

Antenatal oligohydramnios of renal origin: long-term outcome

• 23 fetuses (16 males, 7 females) were included as patients.

• Primary diseases included congenital anomalies of the kidney and urinary tract (n 16), autosomal recessive polycystic kidney disease (n 4) and renal tubular dysgenesis (n 3)

• Seven children died (30%), the majority (n 4, 17%) within the neonatal period due to pulmonary hypoplasia and renal insufficiency.

• Fourteen patients (61%) required postnatal mechanical ventilation;

• 11 infants had an associated pneumothorax.

• All 16 surviving children have chronic kidney disease (CKD) at a current median age of 5.7 years (range 0.5–14.5),

• ROH is not always associated with a poor prognosis and long-term outcome in survivors is encouraging.

• The high incidence of neonatal complications and long-term morbidity due to CKD requires a multidisciplinary management of these children.

01/03/12 Pediatr Nephrol (2006) 21:218–224 6

Outcome of isolated antenatal hydronephrosis:a systematic review and meta-analysis

Grignon 1986 SFU 1993 Fee008d

01/03/12 Pediatrics 2006;118;586 7

Antenatal Hydronephrosis as a Predictor of Postnatal Outcome: A Meta-analysis

01/03/12 Curr Opin Pediatr. 2009 April ; 21(2): 207–213 8

01/03/12 Curr Opin Pediatr. 2009 April ; 21(2): 207–213 9

Common renal abnormalities detected in neonates

• El recién nacido con hidronefrosis persistente en la ecografia postnatal (APD> 7 mm) debe someterse a una evaluación con UCG.

• Se sugiere UCG fluoroscópica ya que proporciona visualización de la anatomía de la vejiga y el aparato urinario, lo que permite el diagnóstico de valvas de uretra, ureteroceles, y otras anormalidades anatómicas que se perderían en una cistografía isotópica.

• Si la UCG es normal y la ecografía muestra una dilatación pélvica > 10 mm, renograma diurético para evaluar estenosis ureteropielica o ureterovesical

01/03/12 Pediatr Nephrol (2004) 19:966–971 10

Current management of infants with fetal renal pelvis dilation

01/03/12 Pediatr Nephrol (2007) 22:1727–1734 11

Outcome of isolated antenatal hydronephrosis: a prospective cohort study

Uropatía 18% 40% 88%

Cirugía 0 5% 56%

01/03/12 Kidney International (2009) 76, 528–533 12

Renal outcome in patients with congenital anomalies of the kidney and urinary tract

• For most of the categories there was a clear prevalence of male patients by a factor of about three, with the only exceptions of multicystic kidney (M/F=0,9) and of posterior urethral valves.

• As expected the majority of patients with multicystic dysplastic kidney and bilateral hypodysplasia were diagnosed at or before birth. It is interesting that except for posterior urethral valves and bilateral hypodysplasia, renal deterioration may not be detectable until late adolescence.

01/03/12 Kidney International (2009) 76, 528–533 13

Survival probabilities by CAKUT category,

01/03/12 Bristish Journal of Radiology 1998;71:497 14

Antenatal ultrasound detection of renal disease

Clasificación de anomalías renales identificación prenatal

2. Oligohidramnio, vejiga fetal no visible

3. Hiperecogenicidad parenquimatosa aislada

4. Quistes unilaterales5. Distensión del sistema colector

1. Pelvis renal (+-Calices); diámetro AP >5 mm a 16-20 semanas

2. Anterior, uréter visible3. Anterior, distensión de vejiga

urinaria