Renal adysplasia

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 Adysplasie (combination of aplasia and dysplasia ) is a very rare congenital disease with kidney malformations, mostly unilateral or bilateral dysplasia or aplasia.

Synonyms are: English renal Hypoplasia / Aplasia 1; RHDA1; Hereditary Renal Aplasia; HRA

The term was coined in 1973 with the first description by the American human geneticist and pediatrician Richard M. Buchta and colleagues.

distribution

The frequency is unknown; the inheritance is autosomal dominant .

root cause

Depending on the underlying mutation , the following types can be distinguished:

• Type 1 with mutations in ITGA8 - gene in chromosome 10 at locus p13
• Type 2 with mutations in the FGF20 gene in chromosome 8 locus p22

Clinical manifestations

Clinical criteria are:

• Missing, hypoplastic or dysplastic kidney on one or both sides
• additional malformations of the heart , lungs and urogenital tract

literature

• E. McPherson, J. Carey, A. Kramer, JG Hall, RM Pauli, RN Schimke, MH Tasin: Dominantly inherited renal adysplasia. In: American journal of medical genetics. Vol. 26, No. 4, April 1987, pp. 863-872, doi: 10.1002 / ajmg.1320260413 , PMID 3591828 .
• A. Dursun, B. Ermis, V. Numanoglu, B. Bahadir, I. Seckiner: Bilateral multicystic renal dysplasia with potter sequence. A case with penile agenesis. In: Saudi medical journal. Vol. 27, No. 11, November 2006, pp. 1745-1747, PMID 17106555 .
• D. Jenkins, M. Bitner-Glindzicz, S. Malcolm, CC Hu, J. Allison, PJ Winyard, AM Gullett, DF Thomas, RA Belk, SA Feather, TT Sun, AS Woolf: De novo Uroplakin IIIa heterozygous mutations cause human renal adysplasia leading to severe kidney failure. In: Journal of the American Society of Nephrology: JASN. Vol. 16, No. 7, July 2005, pp. 2141-2149, doi: 10.1681 / ASN.2004090776 , PMID 15888565 .

Individual evidence

1. ↑ ^{a b c} 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 .
2. ↑ ^{a b} P. Acién, F. Galán, I. Manchón, E. Ruiz, M. Acién, LA Alcaraz: Hereditary renal adysplasia, pulmonary hypoplasia and Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a case report. In: Orphanet Journal of Rare Diseases. Vol. 5, April 2010, p. 6, doi: 10.1186 / 1750-1172-5-6 , PMID 20388228 , PMC 2862022 (free full text).
3. ↑ RM Buchta, C. Viseskul, EF Gilbert, GE Sarto, JM Opitz: Familial bilateral renal agenesis and hereditary renal adysplasia. In: Journal of Pediatrics. Vol. 115, No. 2, August 1973, pp. 111-129, PMID 4744207 .
4. ↑ Renal hypodysplasia / aplasia 1.  In: Online Mendelian Inheritance in Man . (English)
5. ↑ Renal hypodysplasia / aplasia 2.  In: Online Mendelian Inheritance in Man . (English)

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !