Congenital malformations - Edocr

258 PART VII RENAL MALFORMATIONS
TABLE 39-3 Recommended Evaluation for
Infants with Renal Agenesis
• Detailed history and examination
• Rule out tracheoesophageal fistula and
anorectal malformation
• Skeletal survey
• Echocardiogram
• Cranial ultrasound and karyotype in
presence of other congenital malformation
on examination and evaluation
• Pelvic ultrasound in female infants
• Renal scan/voiding cystourethrogram
• Cystoscopy/colposcopy ±
• Serum chemistries to evaluate and monitor
renal function
• Renal ultrasound on parents and siblings
compensatory hypertrophy which can make it
larger than normal kidney size and thus more
susceptible to trauma. This compensatory hypertrophy
is so common that failure to undergo
compensatory hypertrophy could be an indication
of renal dysplasia and may predict progressive
renal insufficiency. There are several reports
of focal glomerulosclerosis in patients with unilateral
renal agenesis which is thought to be related
to hyperfiltration of the remnant nephrons. Argueso
et al reported an increased risk of proteinuria,
hypertension, and renal insufficiency in patients
with unilateral renal agenesis and a normal contralateral
kidney but their survival rate was similar
to that of age, and sex-matched controls. 16
GENETIC COUNSELING
Although both unilateral and bilateral renal agenesis
are usually sporadic, recurrences in more
than 70 families have been reported. 17 The reports
of skipped generation in some of these families
suggest an autosomal dominant pattern of inheritance
with incomplete penetrance (50–90%) and
Renal Agenesis
Family History and/or
Parent/Sibling Renal Ultrasound
Extrarenal Anomalies
Positive
for URA
Negative
for URA
Positive
Negative
Isolated Familial
Renal Agenesis
Isolated Sporadic
Renal Agenesis
Familial
Syndromic Renal
Agenesis
-Syndromic Renal
Agenesis
-Renal Agenesis
with Multiple
Congenital
Anomalies
Likely Autosomal
Dominant
Likely Sporadic
Multifactorial AR,
AD, X-linked
-Multifactorial
-Sporadic, Mutation
-Chromosomal Anomaly
Figure 39-1. Algorithm to help establish etiology and recurrence risk in patients with renal
agenesis. (URA, unilateral renal agenesis; AD, autosomal dominant; AR, autosomal recessive)