Congenital malformations - Edocr

TABLE 41-2 Summary of Clinical Presentation in Common Renal Cystic Diseases in Newborn (Continued)
Associated Clinical Course/ Mode of Prenatal diagnosis
Diagnosis Syndromes Outcome Inheritance Genetic USG Comments
269
ADPKD Usually none Progressive deterioration AD Possible Yes Only 1–2% of all nephrons are
to ESRD; perinatal
affected; need chronic
presentation dialysis and transplant; 56%
associated with more
of affected patients have
severe disease
cysts detected by USG in
first decade, 80% in second
decade, and virtually all by
beginning of third decade;
severity of parental disease
does not predict child’s
disease
ARPKD None Progressive deterioration AR Possible Yes Need chronic dialysis and
to ESRD; high
candidate for liver and renal
mortality with perinatal
transplant; 80% of tubules
presentation
involved in perinatal cases
versus 10% in patients
presenting in childhood
MCDK Associated with Fatal if bilateral, variable Sporadic No Yes Serial USG have shown that
over 80 OUTCOME if unilateral rarely AD MCDK can involute and
syndromes/ and depends on even disappear completely
associations; contralateral kidney in a significant proportion of
present in 10–15% function and cases; more common in
of cases, of MCDK; associated renal/extra- males but bilateral disease
abnormal renal anomalies is more common in females;
chromosome in
females more likely to have
about 3%; more
extrarenal anomalies and
common in
abnormal chromosomal
infants with
study
bilateral disease
(Continued)