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Diagnosis of congenital renal anomalies in children
Clinical Biochemistry 44 (2011) 498
Contents lists available at ScienceDirect
Clinical Biochemistry j o u r n a l h o m e p a g e : w w w. e l s e v i e r. c o m / l o c a t e / c l i n b i o c h e m
Diagnosis of congenital renal anomalies in children Tej K. Mattoo Wayne State University School of Medicine, Chief, Pediatric Nephrology and Hypertension, Children's Hospital of Michigan, 3901 Beaubien Boulevard, Detroit, MI, 48201, USA
a r t i c l e
i n f o
Article history: Accepted 23 March 2011 Keywords: Congenital Kidney CAKUT
Congenital renal abnormalities are the most common cause of renal disease in children and the commonest cause for end-stage renal failure in 30%–50% of children and adolescents [1]. Non-renal congenital abnormalities occur in about 30% of cases with congenital renal malformations [2]. Congenital renal anomalies of the kidney and urinary tract (CAKUT) occur in 0.3 to 1.6 per 1000 live and stillborn infants [2,3]. The long-term outcome in patients with bilateral renal involvement depends on the nature of the disease whereas it is excellent in those with unilateral disease with a normal contralateral kidney. As a result of advances in patient care, an increasing number of pediatric patients with significant congenital anomalies now graduate to the adult programs for continued care. A congenital renal disorder is acquired during fetal development and is not necessarily genetic in origin or inherited from the parent(s). Some congenital renal diseases are a result of genetic abnormalities, such as polycystic kidneys (PKHD1 and PKD) and the Finnish-type of congenital nephrotic syndrome (NPHS1). Errors of morphogenesis can cause a variety of congenital renal anomalies and these include failure of normal nephron development (renal dysplasia/dysplasia and renal agenesis), abnormal embryonic migration of the kidneys (ectopic kidney and horseshoe kidney), abnormalities of the developing urinary collecting and drainage systems (duplex kidney and hydronephrosis), and abnormal bladder or outlet development (vesicoureteral reflux, ureterocele, and posterior urethral valves). A congenital renal abnormality may also be a result of an infection (congenital nephrotic syndrome).
Congenital renal abnormality may be diagnosed antenatally or after birth. CAKUT constitute approximately 20 to 30% of all anomalies identified in the prenatal period [3]. Advances in genetic testing and antenatal ultrasonography are helpful in prenatal diagnosis of a variety of congenital renal abnormalities. The genetic testing is used infrequently because of its limitations with sample collection and clinical usefulness. On the contrary, fetal renal ultrasound examination, a noninvasive method that is being used in many countries for routine antenatal care, has become the most useful tool for antenatal diagnosis and follow-up of congenital anomalies of kidneys and the urinary tract. Postnatally also, renal ultrasound remains the most widely used method for the diagnosis and follow-up of congenital renal and urinary tract abnormalities. These include renal agenesis, hypoplasia, actopia, horse-shoe kidney, duplex kidney, and urinary tract obstruction. Cystic kidney diseases such as multicystic renal dysplasia and polycystic kidney disease are often diagnosed by ultrasound examination. Other renal imaging investigations that help in the diagnosis and the management of congenital renal abnormalities include voiding cystourethrogram (posterior uretheral valves), isotope renal scan (obstructive uropathy), intravenous pyelogram (medullary sponge kidney), MRI/CT scan (atrophic/hypoplastic kidney and renal artery stenosis), and renal arteriogram (renal artery stenosis). Genetic testing is used less frequently in the diagnosis of congenital renal disease in children because 1) they are expensive, 2) not required for diagnosis in most cases, and 3) very often don't change clinical management. Other tests that may be used for diagnosing congenital renal disease include serology for congenital infections (congenital nephrotic syndrome), and blood and urine chemistry (Cystinosis and Bartter syndrome). References [1] Seikaly MG, et al. Chronic renal insufficiency in children: the 2001 Annual Report of the NAPRTCS. Pediatr Nephrol (Berlin Germany) 2003;18(8):796–804. [2] Wiesel A, et al. Prenatal detection of congenital renal malformations by fetal ultrasonographic examination: an analysis of 709,030 births in 12 European countries. Eur J Med Genet 2005;48(2):131–44. [3] Queisser-Luft A, et al. Malformations in newborn: results based on 30,940 infants and fetuses from the Mainz congenital birth defect monitoring system (1990–1998). Arch Gynecol Obstet 2002;266(3):163–7.
E-mail address: [email protected]. 0009-9120/$ – see front matter © 2011 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved. doi:10.1016/j.clinbiochem.2011.03.131
Contents lists available at ScienceDirect
Clinical Biochemistry j o u r n a l h o m e p a g e : w w w. e l s e v i e r. c o m / l o c a t e / c l i n b i o c h e m
Diagnosis of congenital renal anomalies in children Tej K. Mattoo Wayne State University School of Medicine, Chief, Pediatric Nephrology and Hypertension, Children's Hospital of Michigan, 3901 Beaubien Boulevard, Detroit, MI, 48201, USA
a r t i c l e
i n f o
Article history: Accepted 23 March 2011 Keywords: Congenital Kidney CAKUT
Congenital renal abnormalities are the most common cause of renal disease in children and the commonest cause for end-stage renal failure in 30%–50% of children and adolescents [1]. Non-renal congenital abnormalities occur in about 30% of cases with congenital renal malformations [2]. Congenital renal anomalies of the kidney and urinary tract (CAKUT) occur in 0.3 to 1.6 per 1000 live and stillborn infants [2,3]. The long-term outcome in patients with bilateral renal involvement depends on the nature of the disease whereas it is excellent in those with unilateral disease with a normal contralateral kidney. As a result of advances in patient care, an increasing number of pediatric patients with significant congenital anomalies now graduate to the adult programs for continued care. A congenital renal disorder is acquired during fetal development and is not necessarily genetic in origin or inherited from the parent(s). Some congenital renal diseases are a result of genetic abnormalities, such as polycystic kidneys (PKHD1 and PKD) and the Finnish-type of congenital nephrotic syndrome (NPHS1). Errors of morphogenesis can cause a variety of congenital renal anomalies and these include failure of normal nephron development (renal dysplasia/dysplasia and renal agenesis), abnormal embryonic migration of the kidneys (ectopic kidney and horseshoe kidney), abnormalities of the developing urinary collecting and drainage systems (duplex kidney and hydronephrosis), and abnormal bladder or outlet development (vesicoureteral reflux, ureterocele, and posterior urethral valves). A congenital renal abnormality may also be a result of an infection (congenital nephrotic syndrome).
Congenital renal abnormality may be diagnosed antenatally or after birth. CAKUT constitute approximately 20 to 30% of all anomalies identified in the prenatal period [3]. Advances in genetic testing and antenatal ultrasonography are helpful in prenatal diagnosis of a variety of congenital renal abnormalities. The genetic testing is used infrequently because of its limitations with sample collection and clinical usefulness. On the contrary, fetal renal ultrasound examination, a noninvasive method that is being used in many countries for routine antenatal care, has become the most useful tool for antenatal diagnosis and follow-up of congenital anomalies of kidneys and the urinary tract. Postnatally also, renal ultrasound remains the most widely used method for the diagnosis and follow-up of congenital renal and urinary tract abnormalities. These include renal agenesis, hypoplasia, actopia, horse-shoe kidney, duplex kidney, and urinary tract obstruction. Cystic kidney diseases such as multicystic renal dysplasia and polycystic kidney disease are often diagnosed by ultrasound examination. Other renal imaging investigations that help in the diagnosis and the management of congenital renal abnormalities include voiding cystourethrogram (posterior uretheral valves), isotope renal scan (obstructive uropathy), intravenous pyelogram (medullary sponge kidney), MRI/CT scan (atrophic/hypoplastic kidney and renal artery stenosis), and renal arteriogram (renal artery stenosis). Genetic testing is used less frequently in the diagnosis of congenital renal disease in children because 1) they are expensive, 2) not required for diagnosis in most cases, and 3) very often don't change clinical management. Other tests that may be used for diagnosing congenital renal disease include serology for congenital infections (congenital nephrotic syndrome), and blood and urine chemistry (Cystinosis and Bartter syndrome). References [1] Seikaly MG, et al. Chronic renal insufficiency in children: the 2001 Annual Report of the NAPRTCS. Pediatr Nephrol (Berlin Germany) 2003;18(8):796–804. [2] Wiesel A, et al. Prenatal detection of congenital renal malformations by fetal ultrasonographic examination: an analysis of 709,030 births in 12 European countries. Eur J Med Genet 2005;48(2):131–44. [3] Queisser-Luft A, et al. Malformations in newborn: results based on 30,940 infants and fetuses from the Mainz congenital birth defect monitoring system (1990–1998). Arch Gynecol Obstet 2002;266(3):163–7.
E-mail address: [email protected]. 0009-9120/$ – see front matter © 2011 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved. doi:10.1016/j.clinbiochem.2011.03.131