Acrorenal Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.2 | Congenital malformation syndromes with predominant involvement of the extremities |
| ICD-10 online (WHO version 2019) | |
A Akrorenales syndrome , also Akrorenaler symptom complex, English syndrome Acrorenal is, in a broader sense a generic term for congenital syndromes with malformations of the limbs and the kidneys , and is as real Akrorenales syndrome to describe a very rare autosomal - recessive used inheritable disease.
The first description comes from 1969 by the German doctor H Dieker and John Marius Opitz .
distribution
The association of limb defects with kidney anomalies is common and occurs in 1 in 20,000 newborns , often with additional malformations.
The frequency of the actual syndrome is given as less than 1 in 1,000,000, so far about 20 patients have been reported. The inheritance is presumably autosomal - recessive .
root cause
The disease is based on mutations at locus 15q13-q14.
Clinical manifestations
Clinical criteria of the acrorenal syndrome as a generic term are:
- Different combinations of cleft hand, cleft foot, polydactyly , oligodactyly , brachydactyly , ectrodactyly , bony fusions of phalanges, metacarpals , metatarsals
- Unilateral renal agenesis , bilateral renal hypoplasia , double kidneys , malformations of the ureter , the urinary bladder triangle , bladder neck obstruction
In addition:
Growth disturbances , psychomotor retardation , Coloboma , Hypertelorism , antimongoloid history Lidachse, Hopyoplasie the helix , high palate , Zahnschmelzhypoplasie , clinodactyly , coxa valga , coarctation of the aorta , hypospadias or cryptorchidism
The syndrome occurs more frequently in males.
Criteria for the actual acrorenal syndrome :
- Usually bilateral ectrodactyly, more rarely longitudinal hypoplasia of the radius , ulna , tibia or fibula
- Renal agenesis or hypoplasia, rarely cystic kidneys
Other malformations are common.
diagnosis
The diagnosis is based on the clinical findings and those of the X-ray image . Intrauterine detection is possible using fine ultrasound .
literature
- R. Houlston, K. MacDermot: Acrorenal syndrome: further observations. In: Clinical dysmorphology. Vol. 1, No. 1, January 1992, pp. 23-28, PMID 1342854 (Review).
- M. Zeier, E. Ritz: No 'stinky fingers' and renal failure - do you see a link? Diagnosis: acrorenal syndrome. In: Nephrology, dialysis, transplantation: official publication of the European Dialysis and Transplant Association - European Renal Association. Vol. 14, No. 11, November 1999, pp. 2763-2765, PMID 10534529 .
- K. Akl: Acrorenal syndrome in a child with renal failure. In: American journal of medical genetics. Vol. 49, No. 4, February 1994, p. 447, doi: 10.1002 / ajmg.1320490419 , PMID 8179725 .
Individual evidence
- ↑ a b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
- ↑ a b c d Orphanet
- ^ H. Dieker, JM Opitz: Associated acral and renal malformations. In: Birth Defects Orig. Art. Ser. V (3) , 1969, pp. 68-77.
- ↑ I. Meizner, J. Bar-Ziv, Y. Barki, D. Abeliovich: Prenatal ultrasonic diagnosis of radially-ray aplasia and renal anomalies (acro-renal syndrome). In: Prenatal Diagnosis . Vol. 6, No. 3, 1986 May-Jun, pp. 223-225, PMID 3523477 .
