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.

Diagnosis

The diagnosis can be made by histomorphology. The kidneys show no or only few differentiated proximal tubules.

Systematic

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
	BMP7
	BNAR syndrome
	Brain malformations with urinary tract defects
	Branchio-oculo-facial syndrome
	Branchiootic syndrome
	Branchiootorenal dysplasia
	CHARGE syndrome
	CHD1L
	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
		ACE
		AGT
		AGTR1
		REN
	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