Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Renal tubular dysgenesis

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.

Clinical Findings

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 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.


Congenital abnormalities of the kidney and urinary tract
Acro-renal-ocular syndrome
Aplasia of lacrimal and salivary glands
Autosomal dominant Robinow syndrome 1
Autosomal recessive Robinow syndrome
BNAR syndrome
Brain malformations with urinary tract defects
Branchio-oculo-facial syndrome
Branchiootic syndrome
Branchiootorenal dysplasia
CHARGE syndrome
Congenital anomalies of kidney and urinary tract 1
Congenital anomalies of kidney and urinary tract 2
Congenital hypogonadotropic hypogonadism with anosmia 1
Congenital hypogonadotropic hypogonadism without anosmia 5
Denys-Drash syndrome
Fraser syndrome
Frasier syndrome
Goldberg-Shprintzen syndrome
IVIC syndrome
Ivemark syndrome
Kabuki syndrome
Lacrimoauriculodentodigital syndrome
Mowat-Wilson syndrome
Papillorenal syndrome
Renal cysts and diabetes (RCAD)
Renal dysplasia with hypopituitarism and diabetes
Renal hypodysplasia/aplasia
Renal tubular dysgenesis
Renal-hepatic-pancreatic dysplasia
SERKAL syndrome
Simpson-Golabi-Behmel syndrome
Smith-Lemli-Opitz syndrome
Somatic nephroblastoma
Susceptibility to cystic renal dysplasia
Syndromic microphthalmia 6
Urofacial syndrome
Vesicoureteral reflux
WAGR syndrome



Gribouval O et al. (2005) Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis.


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.


Allanson JE et al. (1992) Renal tubular dysgenesis: a not uncommon autosomal recessive syndrome: a review.


Barr M et al. (1991) ACE inhibitor fetopathy and hypocalvaria: the kidney-skull connection.


Russo R et al. (1991) Renal tubular dysgenesis and very large cranial fontanels in a family with acrocephalosyndactyly S.C. type.


MacMahon P et al. (1990) A further family with congenital renal proximal tubular dysgenesis.


Schwartz BR et al. (1986) Isolated congenital renal tubular immaturity in siblings.


Allanson JE et al. (1983) Possible new autosomal recessive syndrome with unusual renal histopathological changes.


McFadden DE et al. (1997) Renal tubular dysgenesis with calvarial hypoplasia: report of two additional cases and review.


Hisama FM et al. (1998) Renal tubular dysgenesis, absent nipples, and multiple malformations in three brothers: a new, lethal syndrome.

Update: Sept. 26, 2018