renal adysplasia
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Definition: Any combination of renal agenesis (renal aplasia) and non-obstructive renal dysplasia (NORD). An autosomal dominant inheritance is suggested.
NB: The term of ?renal adysplasia? is also wrongly used as a synonymous of ?renal agenesis?.
Types
familial renal adysplasia (12381441, 10546096, 3591828)
- dominantly inherited renal adysplasia (3591828)
Association
cystic dysplasia of the rete testis (16822083)
autosomal balanced 6p/19q translocation (8065999)
Case records
References
Bouron-Dal Soglio D, Harvey I, Jovanovic M, Oligny LL, Fournet JC. Bilateral cystic dysplasia of the rete testis with renal adysplasia. Pediatr Dev Pathol. 2006 Mar-Apr;9(2):157-60. PMID: 16822083
Doray B, Gasser B, Reinartz I, Stoll C. Hereditary renal adysplasia in a three generations family. Genet Couns. 1999;10(3):251-7. PMID: 10546096
Moerman P, Fryns JP, Sastrowijoto SH, Vandenberghe K, Lauweryns JM. Hereditary renal adysplasia: new observations and hypotheses. Pediatr Pathol. 1994 May-Jun;14(3):405-10. PMID: 8065999
McPherson E, Carey J, Kramer A, Hall JG, Pauli RM, Schimke RN, Tasin MH. Dominantly inherited renal adysplasia. Am J Med Genet. 1987 Apr;26(4):863-72. PMID: 3591828
Buchta RM, Viseskul C, Gilbert EF, Sarto GE, Opitz JM. Familial bilateral renal agenesis and hereditary renal adysplasia. Z Kinderheilkd. 1973 Aug 31;115(2):111-29. PMID: 4744207
McPherson E, Carey J, Kramer A, Hall JG, Pauli RM, Schimke RN, Tasin MH. Dominantly inherited renal adysplasia. Am J Med Genet. 1987 Apr;26(4):863-72. PMID: 3591828
Squiers EC, Morden RS, Bernstein J. Renal multicystic dysplasia: an occasional manifestation of the hereditary renal adysplasia syndrome. Am J Med Genet Suppl. 1987;3:279-84. PMID: 3130862