Congenital malformations - Edocr

CHAPTER 41 RENAL CYSTIC DISEASES 271
ASSOCIATED MALFORMATIONS
AND SYNDROMES
The presence of associated anomalies in an infant
with cystic renal disease is highly suggestive
of either MCDK or other syndromic forms
of cystic renal disease. Associated anomalies of
the genitourinary system are significantly more
common than anomalies of other organ systems.
Genitourinary anomalies on either the ipsilateral
or contralateral side are reported in 20–75%
of all infants with unilateral multicystic kidney
and extrarenal anomalies are noted in 5–35% of
these infants. 7 The highest rate of associated
genitourinary anomalies was noted when cystoscopy
and colposcopy were also done in addition
to ultrasound and voiding cystourethrogram
(VCUG). 7 Table 41-3 summarizes reported renal
and extrarenal anomalies in infants with cystic
renal disease.
Renal cysts have been described as part of
several common and uncommon syndromes. The
histopathological, clinical, and radiological findings
in these cases can be consistent with MCDK,
glomerulocystic kidney disease (GCKD), or juvenile
nephronophthisis (JNPHP). Infants with syndromic
cystic renal disease almost always have
associated extrarenal anomalies and are likely to
have bilateral disease. Table 41-4 provides a brief
list of common syndromes in which cystic renal
disease has been described and the mode of inheritance
associated with each one.
EVALUATION
A detailed family history and complete physical
examination for associated congenital anomalies
of other organ systems are the necessary first
steps in the evaluation of an infant with cystic
renal disease. MCDK, the most common cause of
cystic renal disease in the newborn, is a sporadic
disorder in most cases and is not associated with
a positive family history in majority of cases.
ADPKD, ARPKD, and GCKD are inheritable
disorders and a careful family history can be very
TABLE 41-3 Associated Anomalies in
Patients with Cystic Renal Disease
Renal anomalies
Vesicoureteral reflux
Ureteral agenesis or hypoplasia
Ureteropelvic junction obstruction
Bladder wall abnormalities
Ectopic ureter/duplex ureter
Ureterocele
Ectopic kidney
Extrarenal
Central nervous system
Hydrocephalus
Choroid plexus cyst
Spina bifida
Cardiovascular system
Ventricular septal defect
Atrial septal defect
Endocardial cushion defect
Transposition of great vessels
Pulmonary stenosis
Gastrointestinal system
Tracheoesophageal fistula
Imperforate anus
Duodenal atresia
Abdominal wall defect
Skeletal
Polydactyly
Clubbed foot
Hemivertebra
Genitalia
Cystic dysplasia of testis
Vaginal atresia
Imperforate hymen
Persistent seminal cysts
Gartner’s cyst
Ambiguous genitalia
Pulmonary
Pulmonary hypoplasia
Craniofacial
Micrognathia
Potter facies
helpful in providing clues to the diagnosis. It is
important to remember that a negative family
history can not exclude these diagnoses because
of possibility of spontaneous mutations in the