Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Renal tubular dysgenesis is a severe disorder of autosomal recessive inheritance. Anuria already presents in uteri (oligohydramnios) and the children die soon after birth of pulmonary dysfunction.
The pregnancy is characterized by oligohydramnios due to fetal anuria. Perinatal death occurs out of pulnonary hypoplasia.
Symptoms also include redundant skin, facial dysmorphia and lung hypoplasia. Often skull ossification defects are present.
The diagnosis can be made by histomorphology. The kidneys show no or only few differentiated proximal tubules.
| Oligohydramnios | |
 |
Oligohydramnios is the first symptom of RTD. Often the fetal ultrasound also reveals the malformations of both kidneys. |
| Malformations of the urinary tract | |
|
Renal malformations include absence of proximal tubules and renal artery hyperplasia. Early signs can be found by fetal ultrasound along with oligohydramnios. |
| 1. |
Gribouval O et al. (2005) Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis. 
|
| 2. |
Kriegsmann J et al. (2000) Renal tubular dysgenesis (RTD) - an important cause of the oligohydramnion-sequence. Report of 3 cases and review of the literature.
|
| 3. |
Allanson JE et al. (1992) Renal tubular dysgenesis: a not uncommon autosomal recessive syndrome: a review.
|
| 4. |
Barr M et al. (1991) ACE inhibitor fetopathy and hypocalvaria: the kidney-skull connection.
|
| 5. |
Russo R et al. (1991) Renal tubular dysgenesis and very large cranial fontanels in a family with acrocephalosyndactyly S.C. type.
|
| 6. |
MacMahon P et al. (1990) A further family with congenital renal proximal tubular dysgenesis.
|
| 7. |
Schwartz BR et al. (1986) Isolated congenital renal tubular immaturity in siblings.
|
| 8. |
Allanson JE et al. (1983) Possible new autosomal recessive syndrome with unusual renal histopathological changes.
|
| 9. |
McFadden DE et al. (1997) Renal tubular dysgenesis with calvarial hypoplasia: report of two additional cases and review.
|
| 10. |
Hisama FM et al. (1998) Renal tubular dysgenesis, absent nipples, and multiple malformations in three brothers: a new, lethal syndrome.
|
| 11. |
Orphanet article Orphanet ID 3033
|
| 12. |
OMIM.ORG article Omim 267430
|
 |
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944 Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits |
