Congenital Anomalies of the Kidney and the Urinary Tract (CAKUT)

Rodríguez, Maria M.

doi:10.3109/15513815.2014.959678

Cited by 149 publications

(115 citation statements)

References 47 publications

(50 reference statements)

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“…Other authors also observed a regression of renal cysts [13]. However, renal insufficiency occurs in 5-25% of BBS cases, and in 4-10% of cases the insufficiency is progressive, which is the most frequent cause of death [14,15].…”

Section: Discussionmentioning

confidence: 98%

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Prenatal and Postnatal Diagnostics of a Child with Bardet-Biedl Syndrome: Case Study

Pasińska¹,

Dudarewicz²

2015

J Mol Genet Med

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Bardet Biedl Syndrome (BBS) is a rare, genetically determined syndrome which can result from a mutation in one of 19 known genes (often called BBS complex), which play a vital role in building structures and cell functions of cilia. Phenotypic symptoms of the syndrome usually progress in the first decade of life, however, they are characterized by a high diversity which makes their diagnosis difficult, especially in the early stage of life. The diagnosis is most frequently based on clinical symptoms and established in late childhood or adult life. BBS is a disorder of the non-motile cilia, which play the role of antennae receiving and transmitting sensory signals to photoreceptors of the retina, hearing cells or olfactory cells. Clinical symptoms of the disorders affecting these structures are: retinal pigmentary degeneration, polydactyly, learning difficulties, and formation of kidney, liver and pancreas cysts. The inheritance mode of BBS is in 80% autosomal recessive, which is connected with both parents carrying a mutated allele, and usually only giving birth to a symptomatic child defines a family as being at genetic risk, whith 25% risk of having another child with the disease and 50% of having offspring that are asymptomatic carriers For families with an identified mutation there exists a possibility of conducting prenatal or preimplementation genetic diagnosis in subsequent pregnancies The article presents a case of a patient in whom prenatal ultrasonography and subsequent clinical trials in post-natal period resulted in a Bardet-Biedl syndrome diagnosis, which was later confirmed through molecular tests.

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Section: Discussionmentioning

confidence: 98%

“…Diagnosis of this syndrome is based mostly on clinical criteria and, due to a better prognosis, requires a priori exclusion of BBS [6,15]. One of the known genes responsible for this syndrome is the MKS gene.…”

Section: Discussionmentioning

confidence: 99%

Prenatal and Postnatal Diagnostics of a Child with Bardet-Biedl Syndrome: Case Study

Pasińska¹,

Dudarewicz²

2015

J Mol Genet Med

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“…Many theories exist to explain the development of intrinsic UPJO. Some authors postulate that intrinsic UPJO is thought to be a result of inadequate recanalization in utero at 10-12 weeks of gestation [1] and others associate it with smooth muscle cell apoptosis and defective neural development [3].…”

Section: Discussionmentioning

confidence: 99%

A Child with Bilateral Hydronephrosis Presenting with Coexistence of Bilateral UPJ and Bilateral UVJ Obstruction: A Case Report

Gupta¹

2016

J.Paedi.Care.Inol

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“…[2] CAKUT includes a wide range of kidney anomalies including aplasia, hypoplasia, adysplasia, multicystic dysplasia and ureteric anomalies such as megaureter, ureteropelvic junction obstruction or incompetence, duplex kidney/ureters, and anomalies of the bladder and urethra. [3,4] Renal adysplasia is rare, occurring in only one per 10,000 births. Despite its being moreover a sporadic event, there is a M:F ratio of 2.5 to 1 and approximately 20-36% present with a familial recurrence, probably autosomal dominant mode of inheritance with incomplete penetrance and variable expression, termed as hereditary renal adysplasia.…”

Section: Discussionmentioning

confidence: 99%

Renal adysplasia in fetus: A rare autopsy case report

Bhandari¹,

Patil²,

Kittur³

2017

APALM

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Renal adysplasia is rare, occurring in only one per 10,000 births. Ultrasonography at 21 weeks of gestation in 33 years woman showed cystically enlarged left kidney in fetus and absent right kidney in fetus for which the pregnancy was terminated. On fetal autopsy, left kidney showed multiple tiny cysts. Microscopy of the left kidney showed features of dysplasia and confirmed the absence of right kidney and bilateral ureters. The diagnosis of renal adysplasia (multicystic dysplasia of left kidney and agenesis of right kidney) was made. This case is presented for its rarity.

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Congenital Anomalies of the Kidney and the Urinary Tract (CAKUT)

Cited by 149 publications

References 47 publications

Prenatal and Postnatal Diagnostics of a Child with Bardet-Biedl Syndrome: Case Study

Prenatal and Postnatal Diagnostics of a Child with Bardet-Biedl Syndrome: Case Study

A Child with Bilateral Hydronephrosis Presenting with Coexistence of Bilateral UPJ and Bilateral UVJ Obstruction: A Case Report

Renal adysplasia in fetus: A rare autopsy case report

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