Genetic link between renal birth defects and congenital heart disease

Agustin, Jovenal T. San; Klena, Nikolai; Granath, Kristi; Panigrahy, Ashok; Stewart, Eileen; Devine, William; Strittmatter, Lara; Jonassen, Julie A.; Liu, Xiaoqin; Lo, Cecilia; Pazour, Gregory J.

doi:10.1038/ncomms11103

Cited by 62 publications

(65 citation statements)

References 43 publications

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“…A small retrospective series reported that 30% of patients with CHD also had renal anomalies. 42 Although the true prevalence is likely lower, many pediatric cardiac centers actively screen patients with complex CHD for structural renal abnormalities. Renal artery stenosis is prevalent in nonsyndromic (familial supravalvular aortic stenosis) and syndromic (Williams-Beuren syndrome) elastin insufficiency and may contribute to the development of hypertension in those individuals.…”

Section: Overviewmentioning

confidence: 99%

Diagnosis and Management of Noncardiac Complications in Adults With Congenital Heart Disease: A Scientific Statement From the American Heart Association

Lui¹,

Saïdi²,

Bhatt³

et al. 2017

Circulation

180

136

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ABSTRACT:Life expectancy and quality of life for those born with congenital heart disease (CHD) have greatly improved over the past 3 decades. While representing a great advance for these patients, who have been able to move from childhood to successful adult lives in increasing numbers, this development has resulted in an epidemiological shift and a generation of patients who are at risk of developing chronic multisystem disease in adulthood. Noncardiac complications significantly contribute to the morbidity and mortality of adults with CHD. Reduced survival has been documented in patients with CHD with renal dysfunction, restrictive lung disease, anemia, and cirrhosis. Furthermore, as this population ages, atherosclerotic cardiovascular disease and its risk factors are becoming increasingly prevalent. Disorders of psychosocial and cognitive development are key factors affecting the quality of life of these individuals. It is incumbent on physicians who care for patients with CHD to be mindful of the effects that disease of organs other than the heart may have on the well-being of adults with CHD. Further research is needed to understand how these noncardiac complications may affect the long-term outcome in these patients and what modifiable factors can be targeted for preventive intervention.

show abstract

Section: Overviewmentioning

confidence: 99%

Diagnosis and Management of Noncardiac Complications in Adults With Congenital Heart Disease: A Scientific Statement From the American Heart Association

Lui¹,

Saïdi²,

Bhatt³

et al. 2017

Circulation

180

136

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“…43 Also, at least 1 Robo1 mice mutant develops multiplex kidneys. 44 Furthermore, in situ hybridization analysis revealed Robo1 to be expressed in mice 14.5 dpc in a variety of tissues, including brain, spinal cord, eye, alimentary system, skeletal muscles, and limbs (www.eurexpress.org).…”

Section: Variant In Ret (+164761)mentioning

confidence: 99%

Targeted gene sequencing and whole‐exome sequencing in autopsied fetuses with prenatally diagnosed kidney anomalies

et al. 2018

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Identification of fetal kidney anomalies invites questions about underlying causes and recurrence risk in future pregnancies. We therefore investigated the diagnostic yield of next-generation sequencing in fetuses with bilateral kidney anomalies and the correlation between disrupted genes and fetal phenotypes. Fetuses with bilateral kidney anomalies were screened using an in-house-designed kidney-gene panel. In families where candidate variants were not identified, whole-exome sequencing was performed. Genes uncovered by this analysis were added to our kidney panel. We identified likely deleterious variants in 11 of 56 (20%) families. The kidney-gene analysis revealed likely deleterious variants in known kidney developmental genes in 6 fetuses and TMEM67 variants in 2 unrelated fetuses. Kidney histology was similar in the latter 2 fetuses-presenting a distinct prenatal form of nephronophthisis. Exome sequencing identified ROBO1 variants in one family and a GREB1L variant in another family. GREB1L and ROBO1 were added to our kidney-gene panel and additional variants were identified. Next-generation sequencing substantially contributes to identifying causes of fetal kidney anomalies. Genetic causes may be supported by histological examination of the kidneys. This is the first time that SLIT-ROBO signaling is implicated in human bilateral kidney agenesis.

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“…EC scan function assessment showed hyper functioning in four. These were giant palpable kidney in (1), solitary kidney (1) and contralateral dysplastic kidney in (2) UTI was initial presentation in (6), three had turbid urine on table, which grew organism on culture suggestive of pyonephrosis (2). Six infants developed postoperative UTI, three of whom were stented and responded to early stent removal.…”

Section: Resultsmentioning

confidence: 99%

Clinical profile of infantile pelviureteric junction obstruction

Venkatesh

Raghu

2017

Int Surg J

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Background: Pelviureteric junction obstruction commonly present with antenatal hydronephrosis. The aim was to report and analyze the clinical spectrum of infantile pelviureteric junction obstruction.Methods: Retrospective descriptive study of infants operated for pelviureteric junction obstruction (PUJO) during 2013- 2016. Clinical presentations, management and follow up were analyzed.Results: There were 44 infants involving 48 PUJO renal units of who were nine girls. The sex distribution was 1:3.8. Mean age of the presentation was three months. PUJO was bilateral in four patients. Two patients had unilateral PUJO of lower moiety of duplex system. Median of anteroposterior diameter (APD) and differential function of kidney on EC was 2.5cms and 28% respectively. Three patients had poorly functioning kidneys (PFK) (<10%).Conclusions: Good antenatal counselling and appropriate postnatal evaluation detects PUJO early. Early infantile pyeloplasty is safe and effective. Routine micturating cystourethrography is debatable in pelviureteric junction obstruction.

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Genetic link between renal birth defects and congenital heart disease

Cited by 62 publications

References 43 publications

Diagnosis and Management of Noncardiac Complications in Adults With Congenital Heart Disease: A Scientific Statement From the American Heart Association

Diagnosis and Management of Noncardiac Complications in Adults With Congenital Heart Disease: A Scientific Statement From the American Heart Association

Targeted gene sequencing and whole‐exome sequencing in autopsied fetuses with prenatally diagnosed kidney anomalies

Clinical profile of infantile pelviureteric junction obstruction

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