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Congenital abnormalities of the kidney and urinary tract


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Congenital abnormalities of the kidney and urinary tract

Clinical feature: 

Definition: CAKUT is a large group of hereditary diseases which have in common congenital abnormalities. Most often malformations are not only restricted to kidney and urinary tract, but also other organs may be involved. The modes of inheritance are so variable as are the underlying genetic defects.

Systematic link table: 

Hereditary kidney diseases
Congenital abnormalities of the kidney and urinary tract
Branchiootorenal dysplasia
Branchiootorenal dysplasia 1
EYA1
Branchiootorenal dysplasia 2
SIX5
Denys-Drash syndrome
WT1
Frasier syndrome
WT1
Lowe disease
OCRL1
MODY5 diabetes
HNF1B
Renal cysts and diabetes (RCAD)
HNF1B
WAGR syndrome
WT1
Cystic kidney disease
Disorders of tubular solute transport
Hereditary glomerular disease
Hereditary renal tumors
Interstitial kidney disease
Kidney disease appearing as endocrinological disorders
Thrombotic microangiopathies
Urolithiasis

Literature: 

Neild GH et al. (2009) What do we know about chronic renal failure in young adults? I. Primary renal disease.
Yosypiv IV et al. (2008) A new role for the renin-angiotensin system in the development of the ureteric bud and renal collecting system.
Rosen S et al. (2008) The kidney in congenital ureteropelvic junction obstruction: a spectrum from normal to nephrectomy.
Winyard P et al. (2008) Dysplastic kidneys.
Schedl A et al. (2007) Renal abnormalities and their developmental origin.
Nakai H et al. (2003) Changing concepts in urological management of the congenital anomalies of kidney and urinary tract, CAKUT.
Nakanishi K et al. (2003) Genetic disorders of human congenital anomalies of the kidney and urinary tract (CAKUT).
Ichikawa I et al. (2002) Paradigm shift from classic anatomic theories to contemporary cell biological views of CAKUT.
Pope JC et al. (1999) How they begin and how they end: classic and new theories for the development and deterioration of congenital anomalies of the kidney and urinary tract, CAKUT.
Yerkes E et al. (1998) Role of angiotensin in the congenital anomalies of the kidney and urinary tract in the mouse and the human.