| Abstracts:
Renal aplasia is the
predominant cause of congenital solitary kidneys.
Kidney International
(2002) 61, 1840–1844;
doi:10.1046/j.1523-1755.2002.00322.
Backround:
Congenital solitary kidneys, which are susceptible to renal failure,
have been considered mostly due to unilateral renal agenesis and
partly due to renal aplasia. Risk of familial recurrence and of
other associated anomalies is known to be much higher in renal
agenesis than in renal aplasia. However, differential diagnosis
between the two renal anomalies is difficult, and renal agenesis has
been found much less frequently in ultrasound screening studies of
fetuses than in autopsy studies.
Methods:
In order to investigate the nature and incidence of the congenital
solitary kidney, the present study performed ultrasound screening of
the kidneys in 4000 newborn babies. A diagnosis of renal agenesis
was made when ultrasound identified no renal parenchyma and
renoscintigraphy showed no renal function, and renal aplasia when
there was a renal parenchyma without any function.
Results:
Primary screening detected 52 babies suspected of having small
kidneys and one baby with a multicystic dysplastic kidney, but
no baby with renal agenesis. Forty-seven of the 53 babies underwent
a second ultrasound scanning at one month of age. Three small
kidneys in three babies further decreased in size, had no function
and were diagnosed as renal aplasia (which has an incidence rate of
one in 1300). Follow-up ultrasound studies showed further regression
in all three, which became very hard to distinguish by one year of
age.
Conclusions:
The present study showed that ultrasound in the neonatal period
could identify the aplastic kidney, which had a reniform
shape, not rudimentary, during the newborn period, and regressed
rapidly thereafter. These findings indicate that most renal agenesis
diagnosed clinically thus far might more correctly be renal aplasia.
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Genetic analysis of adrenal absence: agenesis
and aplasia. Trends in Endocrinology & Metabolism. Volume 16 , Issue
10 , December 2005, Pages 458-468.
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Case 102: pituitary aplasia.Radiology.
2006 Dec;241(3):936-8.
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Congenital anomalies associated with gonadal
aplasia; review of 55 cases.
Pediatrics.
1959 May;23(5):885-902.
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Isolated gonadal aplasia in patients
with female phenotype. Clinical, functional, cytogenetic,
anatomo-pathological and etiopathogenetic aspects.Matern
Infanc (Sao Paulo).
1968 Oct-Dec;26(4):291-352
A familial
syndrome of isolated "aplasia" of the anterior pituitary. Diagnostic
studies and treatment in the neonatal period.
J Pediatr.
1974 Jan;84(1):79-84.
A male
newborn infant developed hypoglycemia, collapsed, and convulsed at
eight hours of age. The diagnosis of pituitary "aplasia" was
suspected, because of a previously affected female sibling, and
treatment with glucocorticoids was instituted. Diagnostic studies
revealed a deficiency of thyrotropin, growth hormone, and prolactin.
He is now six months of age and is thriving on replacement therapy.
Analysis of previous reports of this entity indicates that isolated
"aplasia" of the anterior pituitary is a genetic syndrome with an
autosomal recessive mode of transmission. The course in this patient
suggests that this disorder, if diagnosed, is amenable to therapy. |