*191830 UROGENITAL ADYSPLASIA, HEREDITARY
Alternative
titles; symbols
HEREDITARY RENAL ADYSPLASIA; HRA
RENAL AGENESIS
BILATERAL RENAL AGENESIS; BRA
table OF
CONTENTS
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TEXT
There are reports of bilateral renal agenesis in
sibs (Madisson, 1934;
Schmidt et al., 1952).
On the other hand, 6 cases are known of twin pairs
of which only 1 was affected (Davidson
and Ross, 1954). No twins, both affected, seem
to have been reported. The 'Potter facies,' which
is considered typical of renal agenesis, consists
of wide-set eyes, 'squashed' nose, receding chin,
and large, low-set ears deficient in cartilage
(Potter, 1946). It
occurs in other renal disorders that interfere with
formation of amniotic fluid and in infants with
normal kidneys but prolonged leakage of amniotic
fluid (Bain et al.,
1964). Potter syndrome is characterized by
peculiarity of the facies and ears and is secondary
to compression as a result of oligohydramnios,
whatever the cause. Deformity of the feet and hands
and hypoplasia of the lungs are other features.
Thus, Potter facies is not pathognomonic of renal
agenesis. Indeed, Scott and
Goodburn (1995) found that in 50% of cases of
termination of pregnancy, mainly in the second
trimester, there were no malformations involving
the kidneys. A high incidence of chorioamnionitis
suggested that the mechanism of oligohydramnios was
occult amniotic fluid leakage.
(Wiedemann (1994)
gave a short biography of Edith Potter (1901-1993)
who worked as a pathologist at the Chicago Lying-In
Hospital for over 3 decades.)
Buchta et al. (1973)
suggested that bilateral renal agenesis is
multifactorial with a recurrence risk in sibs of
about 1%. They described a woman with only one
kidney who gave birth to 2 children with the same
condition and a third child with no kidneys. The 2
sisters reported by Schmidt
et al. (1952) were in a family later reported
(Winter et al., 1968) as
having 4 sisters affected with a syndrome that, in
addition to renal hypoplasia or aplasia, showed
vaginal atresia and anomalies of the otic ossicles
(see 267400).
Bound (1943) described
unilateral renal agenesis in a boy and his maternal
uncle, and Gorvoy et al.
(1962) described affected brothers. Buchta
et al. (1973) invented the designation
hereditary renal adysplasia (combining the terms
aplasia and dysplasia) for this disorder and
suggested dominant, probably autosomal,
inheritance. The disorder is more severe in males
than in females. They raised a question of
relationship between this disorder and vaginal
atresia (von Mayer-Rokitansky-Kuster syndrome;
277000),
which they suggested may also be an autosomal
dominant. Further studies on this family
demonstrated that another woman lacked a left
kidney and fallopian tube and had a uterus bicornis
with normal right fallopian tube. The elder of 2
daughters with unilateral renal aplasia had primary
amenorrhea due to vaginal atresia. The fallopian
tubes and the uterus were absent (Opitz,
1987). Battin et al.
(1993) reported a family with unilateral or
bilateral renal agenesis in combination with
mullerian anomalies (vaginal atresia or minor
anomalies). The family provided support for an
autosomal dominant pattern of inheritance with
incomplete penetrance and variable expressivity in
hereditary renal adysplasia associated with
mullerian defects.
Fitch (1977)
concluded that either bilateral or unilateral renal
agenesis may be an expression of a single dominant
gene. Kohn and Borns
(1973) and Zonana et al.
(1976) each described a father with a single
kidney and offspring with bilateral renal agenesis.
Knudsen et al. (1979)
found a 38-year-old man with unilateral renal
agenesis and an ipsilateral seminal vesicle cyst
whose sister had embryologically analogous
malformations, Gartner duct cyst, bicornuated
uterus and renal agenesis. Schimke
and King (1980) suggested that developmental
defects in the mesonephric and paramesonephric
ducts may have a common genetic basis. They
suggested the designation 'hereditary urogenital
adysplasia' for the combination of anomalies of the
mullerian duct with developmental errors of the
urinary tract. Often the concurrence of such
defects is poorly documented, seemingly because of
concentration on one to the exclusion of the other.
Schimke and King (1980)
observed 3-generation transmission of renal
agenesis-dysgenesis with uterine anomaly. The
proband was found on work-up, prompted by
premarital examination, to have a didelphic uterus
with a blind-ending left vaginal pouch, and absent
left kidney. The woman subsequently gave birth to a
premature female infant who died soon after birth
from pulmonary insufficiency. The infant had
dolichocephaly, low-set ears, and deformed nose.
Autopsy showed pulmonary hypoplasia and 'nearly
total renal agenesis.' The vagina, uterus, and
Fallopian tubes were grossly normal. The proband's
father had unilateral renal agenesis. Schmidt
et al. (1982) reported a successful experience
with prenatal diagnosis by ultrasonography in 23
families. Monn and Nordshus
(1984) described 4 affected persons in 3
generations. In 2 affected members, a small tissue
bud with a ureteric remnant was observed. In this
syndrome, differentiation between absence of the
kidney and a small nonfunctioning renal nodule is
not possible by intravenous pyelography.
Ultrasonography and computerized tomography are
superior methods for this. Monn
and Nordshus (1984) marveled at the minimal
compensatory hypertrophy of the normal kidney.
By means of gray-scale ultrasonography,
Roodhooft et al. (1984)
evaluated 71 parents and 40 sibs of 41 index
patients with bilateral renal agenesis, bilateral
severe dysgenesis, or agenesis of one kidney and
dysgenesis of the other. In 10 of the 111
first-degree relatives (9%), asymptomatic renal
malformations, most often unilateral renal
agenesis, was found. The frequency of renal
agenesis of 4.5% can be contrasted with that of
0.3% among 682 adults (p less than 0.004).
Bankier et al. (1985)
undertook a family study of 221 perinatally lethal
renal disease cases in the State of Victoria,
Australia, 1961 to 1980: 134 cases of bilateral
renal agenesis (BRA), 34 cases of unilateral
agenesis with dysplasia of the other kidney
(URA/RD), 42 cases of bilateral renal dysplasia
(BRD), and 11 cases of renal aplasia. The highest
frequency in sibs (8%) was observed when the index
case had BRA and urogenital defects. When BRA was
part of a multiple malformation syndrome in a
proband, none of the sibs had BRA, although 5 of 40
(12.5%) had a similar pattern of malformations. The
findings confirmed that BRA and URA are genetically
related. Kiprov et al.
(1982) described hyperfiltration injury leading
to focal segmental glomerulosclerosis in the normal
kidney in unilateral renal agenesis. Hypertension
and proteinuria have been observed as long-term
consequences of uninephrectomy as in kidney
donation (Hakim et al.,
1984). Protein restriction may have merit.
McPherson et al. (1987)
reported 7 families. Selig
et al. (1993) reported the cases of 4 sibs with
renal dysplasia. One of them had megalocystis
secondary to urethral obstruction and a second had
sirenomelia. The parents were not related and both
had 2 normal kidneys by renal ultrasound. Morse
et al. (1987) reported recurrence of BRA in 3
consecutive sibs. Renal ultrasound studies on both
parents and a surviving child were normal.
Ultrasound was used prenatally to diagnose BRA in
both recurrences, and autopsy confirmed the
diagnosis in otherwise normal fetuses. Bankier
et al. (1988) cautioned that renal ultrasound
examination of the parents cannot be depended on to
exclude the presence of a genotype which will lead
to recurrence in a later-born sib. For that reason,
couples who have had an affected pregnancy should
rely on ultrasound screening of subsequent
pregnancies between 16 and 18 weeks of gestation.
Kidney anomalies consistent with hereditary renal
adysplasia were present in the Vancouver family
with schizophrenia and segmental aberration of
chromosome 5 described by McGillivray
et al. (1990). It may therefore be useful to
search the segment 5q11.2-q13.3 for the gene
responsible for HRA.
SEE
ALSO
- Baron (1954) ;
Brownstein et al.
(1976) ; Cain et al.
(1974) ; Carter et
al. (1979) ; Hack et
al. (1974) ; McPherson
et al. (1985) ; Rizza
and Downing (1971) ; Schinzel
et al. (1978) ; Wilson
and Baird (1985) ; Yates
et al. (1984)
REFERENCES
- 1. Bain, A. D.;
Smith, I. I.; Gauld, I. K. :
- Newborn after prolonged leakage of
liquor amnii. Brit. Med. J. 2:
598-599, 1964.
- 2. Bankier, A.; de
Campo, M.; Newell, R.; Rogers, J. G.; Danks, D.
M. :
- A pedigree study of perinatally
lethal renal disease. J. Med.
Genet. 22: 104-111, 1985.
PubMed ID : 3886908
- 3. Bankier, A.;
Sheffield, L. J.; Danks, D. M. :
- Renal ultrasound examination of
parents in dominantly inherited renal
adysplasia: a note of caution. (Letter)
Am. J. Med. Genet. 29: 695-696,
1988.
PubMed ID : 3287926
- 4. Baron, C. :
- Bilateral agenesis of the kidneys in
two consecutive infants. Am. J.
Obstet. Gynec. 67: 667-670, 1954.
- 5. Battin, J.;
Lacombe, D.; Leng, J.-J. :
- Familial occurrence of hereditary
renal adysplasia with mullerian
anomalies. Clin. Genet. 43:
23-24, 1993.
PubMed ID : 8462192
- 6. Bound, J. P.
:
- Two cases of congenital absence of
one kidney in the same family.
Brit. Med. J. 2: 747, 1943.
- 7. Brownstein, S.;
Kirkham, T. H.; Kalousek, D. K. :
- Bilateral renal agenesis with
multiple congenital ocular anomalies.
Am. J. Ophthal. 82: 770-774, 1976.
PubMed ID : 826161
- 8. Buchta, R. M.;
Viseskul, C.; Gilbert, E. F.; Sarto, G. E.;
Opitz, J. M. :
- Familial bilateral renal agenesis
and hereditary renal adysplasia. Z.
Kinderheilk. 115: 111-129, 1973.
- 9. Cain, D. R.;
Griggs, D.; Lackey, D. A.; Kagan, B. M. :
- Familial renal agenesis and total
dysplasia. Am. J. Dis. Child.
128: 377-380, 1974.
PubMed ID : 4413435
- 10. Carter, C. O.;
Evans, K.; Pescia, G. :
- A family study of renal
agenesis. J. Med. Genet. 16:
176-188, 1979.
PubMed ID : 469895
- 11. Davidson, W.
M.; Ross, G. I. M. :
- Bilateral absence of the kidneys and
related congenital anomalies. J.
Path. Bact. 68: 459-471, 1954.
- 12. Fitch, N.
:
- Heterogeneity of bilateral renal
agenesis. Canad. Med. Assoc.
J. 116: 381-382, 1977.
PubMed ID : 844022
- 13. Gorvoy, J. D.;
Smulewicz, J.; Rothfeld, S. H. :
- Unilateral renal agenesis in two
siblings: case report.
Pediatrics 29: 270-273, 1962.
- 14. Hack, M.;
Jaffe, J.; Blankstein, J.; Goodman, R. M.;
Brish, M. :
- Familial aggregation in bilateral
renal agenesis. Clin. Genet.
5: 173-177, 1974.
PubMed ID : 4829427
- 15. Hakim, R. M.;
Goldszer, R. C.; Brenner, B. M. :
- Hypertension and proteinuria:
long-term sequelae of uninephrectomy in
humans. Kidney Int. 25:
930-936, 1984.
PubMed ID : 6381857
- 16. Kiprov, D. D.;
Colvin, R. B.; McCluskey, R. T. :
- Focal and segmental
glomerulosclerosis and proteinuria associated
with unilateral renal agenesis.
Lab. Invest. 46: 275-281, 1982.
PubMed ID : 7062725
- 17. Knudsen, J. B.;
Brun, B.; Emus, H. C. :
- Familial renal agenesis and
urogenital malformations: seminal vesicle cyst
and vaginal cyst with bicornuate uterus in
siblings. Scand. J. Urol.
Nephrol. 13: 109-112, 1979.
PubMed ID : 419378
- 18. Kohn, G.;
Borns, P. :
- The association of bilateral renal
aplasia in the same family. J.
Pediat. 83: 95-97, 1973.
PubMed ID : 4797640
- 19. Madisson, H.
:
- Ueber das Fehlen beider Nieren
(Aplasia renum bilateralis).
Centrabl. Path. Anat. 60: 1-8, 1934.
- 20. McGillivray, B.
C.; Bassett, A. S.; Langlois, S.; Pantzar, T.;
Wood, S. :
- Familial 5q11.2-q13.3 segmental
duplication cosegregating with multiple
anomalies, including schizophrenia.
Am. J. Med. Genet. 35: 10-13, 1990.
PubMed ID : 1967903
- 21. McPherson, E.;
Carey, J.; Hall, J. G.; Schimke, R. N.; Pauli,
R.; Kramer, A. :
- Autosomal dominant renal adysplasia.
(Abstract) Am. J. Hum. Genet.
37: A68, 1985.
- 22. McPherson, E.;
Carey, J.; Kramer, A.; Hall, J. G.; Pauli, R.
M.; Schimke, R. N.; Tasin, M. H. :
- Dominantly inherited renal
adysplasia. Am. J. Med. Genet.
26: 863-872, 1987.
PubMed ID : 3591828
- 23. Monn, E.;
Nordshus, T. :
- Hereditary renal
adysplasia. Acta Paediat.
Scand. 73: 278-280, 1984.
PubMed ID : 6741530
- 24. Morse, R. P.;
Rawnsley, E.; Crowe, H. C.; Marin-Padilla, M.;
Graham, J. M., Jr. :
- Bilateral renal agenesis in three
consecutive siblings. Prenatal
Diag. 7: 573-579, 1987.
PubMed ID : 3317388
- 25. Opitz, J. M.
:
- Vaginal atresia (von
Mayer-Rokitansky-Kuster or MRK anomaly) in
hereditary renal adysplasia (HRA).
(Editorial) Am. J. Med. Genet.
26: 873-876, 1987.
PubMed ID : 3591829
- 26. Potter, E. L.
:
- Facial characteristics of infants
with bilateral renal agenesis. Am.
J. Obstet. Gynec. 51: 885-888, 1946.
- 27. Rizza, J. M.;
Downing, S. E. :
- Bilateral renal agenesis in two
female siblings. Am. J. Dis.
Child. 121: 60-63, 1971.
PubMed ID : 5539818
- 28. Roodhooft, A.
M.; Birnholz, J. C.; Holmes, L. B. :
- Familial nature of congenital
absence and severe dysgenesis of both
kidneys. New Eng. J. Med. 310:
1341-1345, 1984.
PubMed ID : 6717505
- 29. Schimke, R. N.;
King, C. R. :
- Hereditary urogenital
adysplasia. Clin. Genet. 18:
417-420, 1980.
PubMed ID : 7449179
- 30. Schinzel, A.;
Homberger, C.; Sigrist, T. :
- Bilateral renal agenesis in male
sibs born to consanguineous parents.
J. Med. Genet. 15: 314-316, 1978.
PubMed ID : 712765
- 31. Schmidt, E. C.
H.; Hartley, A. A.; Bower, R. :
- Renal aplasia in sisters.
Arch. Path. 54: 403-406, 1952.
- 32. Schmidt, W.;
Schroeder, T. M.; Buchinger, G.; Kubli, F.
:
- Genetics, pathoanatomy and prenatal
diagnosis of Potter I syndrome and other
urogenital tract diseases. Clin.
Genet. 22: 105-127, 1982.
PubMed ID : 7151297
- 33. Scott, R. J.;
Goodburn, S. F. :
- Potter's syndrome in the second
trimester: prenatal screening and pathological
findings in 60 cases of oligohydramnios
sequence. Prenatal Diag. 15:
519-525, 1995.
PubMed ID : 7544896
- 34. Selig, A. M.;
Benacerraf, B.; Greene, M. F.; Garber, M.-F.;
Genest, D. R. :
- Renal dysplasia, megalocystis, and
sirenomelia in four siblings.
Teratology 47: 65-71, 1993.
PubMed ID : 8475459
- 35. Wiedemann,
H.-R. :
- Edith Potter (1901-1993).
Europ. J. Pediat. 153: 471, 1994.
- 36. Wilson, R. D.;
Baird, P. A. :
- Renal agenesis in British
Columbia. Am. J. Med. Genet.
21: 153-165, 1985.
PubMed ID : 4003440
- 37. Winter, J. S.
D.; Kohn, G.; Mellman, W. J.; Wagner, S. :
- A familial syndrome of renal,
genital, and middle ear anomalies.
J. Pediat. 72: 88-93, 1968.
PubMed ID : 5634940
- 38. Yates, J. R.
W.; Mortimer, G.; Connor, J. M.; Duke, J. E.
:
- Concordant monozygotic twins with
bilateral renal agenesis. J. Med.
Genet. 21: 66-67, 1984.
PubMed ID : 6694189
- 39. Zonana, J.;
Rimoin, D. L.; Hollister, D. W. :
- Renal agenesis--a genetic disorder?.
(Abstract) Pediat. Res. 10:
420, 1976.
CLINICAL
SYNOPSIS
View
Clinical Synopsis Entry
CREATION DATE
Victor A. McKusick : 6/2/1986
EDIT HISTORY
dkim : 7/24/1998
joanna : 4/19/1996
mark : 9/13/1995
mimadm : 6/7/1995
terry : 9/9/1994
carol : 10/20/1993
carol : 6/17/1993
carol : 3/12/1993
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