Renal agenesis

Classification according to ICD-10
Q60.0	Renal agenesis, unilateral
Q60.0	Renal agenesis, bilateral
Q60.2	Renal agenesis, unspecified
ICD-10 online (WHO version 2019)

The renal is during embryonic development lack plant ( agenesis ) or development ( aplasia ) of one or both kidneys and is thus an inhibition malformation .

A distinction is not always made between the terms “renal agenesis” and “renal aplasia” in everyday (clinical) usage.

If both kidneys are missing, which is only compatible with life with kidney dialysis , it is a bilateral renal agenesis , also known as anephria .

root cause

This is due to a disorder in the differentiation of the metanephogenic blastema with either absent or premature death of the ureter bud from Wolff's duct . The adrenal gland is in its normal place. With complete agenesis of Wolff's duct, the ureter , half of the bladder trigonum and the vas deferens are also missing .

Unilateral renal agenesis with autosomal dominant inheritance can be caused by mutations in numerous genes , such as the RET gene in locus 10q11.2, the BMP4 gene in 14q22-q23, the FRAS1 gene in 4q21.21, the FREM1 gene in 9p22.3, the UPK3A gene in 22q13.31, the PAX2 gene in 10q24.31, the HNF1B gene in 17q12, or the DSTYK gene in 1q32.

With bilateral renal agenesis there is sometimes a mutation in the RET gene in the 10q11.2 locus, the FGF20 gene in 8p22-p21.3 or at ITGA8 gene in 10p13 with then autosomal - recessive inheritance.

distribution

Cases of familial accumulation with different modes of inheritance are described. If there has been no renal agenesis in the family, the risk of recurrence after the birth of a child with renal agenesis should be 5%. If other people are known to be affected in the family, this percentage increases to up to 50%.

Unilateral agenesis occurs significantly more frequently in males than in females, more often on the left than on the right, estimated in 1 in 1000–1500 births.

Bilateral agenesis is found in 3 in 40,000 live births and in 4 in 1,000 stillbirths , or in 1 in 8,500 fetuses

In the context of syndromes

Renal agenesis occurs in the context of numerous syndromes :

• Acrorenal Syndrome
• Branchio-oto-renal syndrome
• CHILD syndrome
• Diabetic embryopathy
• DiGeorge syndrome
• Fraser Syndrome
• Holzgreve-Wagner-Rehder syndrome
• Kallmann syndrome (olfactogenital syndrome)
• Cat Scream Syndrome (5p)
• MRKH syndrome
• MURCS association
• Poland Syndrome
• Renal adysplasia
• Rubinstein-Taybi Syndrome
• Sirenomelia
• Smith-Lemli-Opitz syndrome
• Sommer Rathbun Battles Syndrome
• Turner Syndrome (X0)
• OHVIRA syndrome (uterus didelphys with obstructed hemivagina and ipsilateral renal agenesis)
• VACTERL association
• Williams-Beuren Syndrome
• Wolf-Hirschhorn Syndrome (4p)
• XYY syndrome

clinic

If one kidney is absent on one side, the other kidney takes over the entire function as a single kidney and, for this purpose, increases in size intrauterine to the volume of two kidneys. Due to the normal kidney function, there is no clinical abnormality.

In female patients, however, genital malformations are found in 75 to 90% , which must be specifically searched for when diagnosing renal agenesis.

If both kidneys are absent, the function is taken over intrauterine by the placenta , but not enough amniotic fluid is produced . This oligohydramnios is not only the first sign of the ultrasound examination , but also leads to the image of the oligohydramnios sequence (Potter sequence) with typical facial changes (with a prominent skin fold overlapping the inner corners of the eyelids), deformities of the legs and severe pulmonary hypoplasia .

Some fetuses end up being stillborn . Further malformations are found in a quarter.

diagnosis

A bilateral agenesis is noticeable early on in the ultrasound examination due to oligohydramnios, a unilateral agenesis can be detected with fine ultrasound , but it can also remain undetected for life.

Differential diagnosis

The following must be differentiated from renal agenesis:

• pronounced renal hypoplasia or renal dysplasia of one kidney
• resolved multicystic kidney dysplasia
• Kidney malposition, fusional kidneys

Individual evidence

1. ↑ Entry on renal agenesis in Flexikon , a wiki of the DocCheck company
2. ^ W. Pschyrembel: Clinical dictionary. Verlag Walter de Gruyter, 265th edition (2014) ISBN 3-11-018534-2 , p. 1170
3. ^ EW Becht, G. Hutschenreiter, P. Walz, K. Klose: Urological diagnostics with imaging methods , Volume 4: Niere , Georg Thieme Verlag, special edition, Stuttgart / New York 1989, p. 7.
4. ↑ ^{a b c d e f} J. W. Thüroff, H. Schulte-Wissermann (editor): Pediatric urology in clinic and practice., 2nd edition 2000, Thieme, ISBN 3-13-674802-6
5. ↑ Unilateral renal agenesis. In: Orphanet (Rare Disease Database).
6. ↑ ^{a b c} Renal agenesis, bilateral. In: Orphanet (Rare Disease Database).
7. ↑ Renal agenesis.  In: Online Mendelian Inheritance in Man . (English)
8. ↑ Renal hypodysplasia / aplasia 1.  In: Online Mendelian Inheritance in Man . (English)
9. ↑ A. Sigel, R.-H. Ringert (Ed.): Pediatric urology. , Springer 2001, ISBN 978-3-662-08081-8 (print) 978-3-662-08080-1 (online)
10. ↑ 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 .
11. ↑ Aniridia - renal agenesis - psychomotor retardation. In: Orphanet (Rare Disease Database).
12. ↑ Doubling of the uterus - hemivagina - renal agenesis. In: Orphanet (Rare Disease Database).
13. ↑ W. Schuster, D. Färber (editor): Children's radiology. Imaging diagnostics. Springer 1996, ISBN 3-540-60224-0 . Vol. I.

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