Expression of renal aquaporins is down-regulated in children with congenital hydronephrosis

Wen, Jian Guo; Li, Zhen Zhen; Zhang, Hong; Wang, Yan; Wang, Guixian; Wang, Qingwei; Nielsén, Sören; Djurhuus, Jens Christian; Frøkiær, Jørgen

doi:10.3109/00365590903127446

Cited by 15 publications

(3 citation statements)

References 22 publications

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“…Bartter syndrome is perhaps the most surprising diagnosis to underlie secondary NDI. The mechanism is not understood but probably other factors are implicated, including hypokalemia, hypercalciuria, nephrocalcinosis, and high urinary flow and pressure that may cause changes in the expression of AQP2 [ 10 , 11 ]. In fact, hypokalemia is typically associated with decreased AQP2 expression, hypercalciuria affects renal concentrating ability via activation of the calcium-sensing receptor, and nephrocalcinosis may impair water reabsorption.…”

Section: Discussionmentioning

confidence: 99%

Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus

Vergine

Fabbri

Pedini

et al. 2018

Case Reports in Pediatrics

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Bartter syndrome (BS) type 1 (OMIM #601678) is a hereditary salt-losing renal tubular disorder characterized by hypokalemic metabolic alkalosis, hypercalciuria, nephrocalcinosis, polyuria, recurrent vomiting, and growth retardation. It is caused by loss-of-function mutations of the SLC12A1 gene, encoding the furosemide-sensitive Na-K-Cl cotransporter. Recently, a phenotypic variability has been observed in patients with genetically determined BS, including absence of nephrocalcinosis, hypokalemia, and/or metabolic alkalosis in the first year of life as well as persistent metabolic acidosis mimicking distal renal tubular acidosis. We report the case of a child with a genetically determined diagnosis of Bartter syndrome type 1 who presented with a phenotype of nephrogenic diabetes insipidus, with severe hypernatremia and urinary concentrating defect. In these atypical cases, molecular analysis is mandatory to define the diagnosis, in order to establish the correct clinical and therapeutic management.

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Section: Discussionmentioning

confidence: 99%

Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus

Vergine

Fabbri

Pedini

et al. 2018

Case Reports in Pediatrics

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“…The specific functions of each member of this family are now being slowly mapped by several research labs around the world [666] . Their clinical role in cancer [667] , [668] , [669] , [670] , [671] , [672] , [673] , [674] , [675] ,obesity [676] , malaria [677] , [678] and other diseases is emerging [657] , [679] , [680] , [681] , [682] , [683] , [684] , [685] , [686] , [687] , [688] , [689] . In [690] , our group observed the dowregulation of AQP3 in all melanoma cell lines studied of the NCI-60 dataset of Ross et al; this dowregulation was also observed for the CNS and Renal cell lines.…”

Section: Discussionmentioning

confidence: 99%

Cancer Biomarker Discovery: The Entropic Hallmark

Berretta

Moscato

2010

PLoS ONE

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BackgroundIt is a commonly accepted belief that cancer cells modify their transcriptional state during the progression of the disease. We propose that the progression of cancer cells towards malignant phenotypes can be efficiently tracked using high-throughput technologies that follow the gradual changes observed in the gene expression profiles by employing Shannon's mathematical theory of communication. Methods based on Information Theory can then quantify the divergence of cancer cells' transcriptional profiles from those of normally appearing cells of the originating tissues. The relevance of the proposed methods can be evaluated using microarray datasets available in the public domain but the method is in principle applicable to other high-throughput methods.Methodology/Principal FindingsUsing melanoma and prostate cancer datasets we illustrate how it is possible to employ Shannon Entropy and the Jensen-Shannon divergence to trace the transcriptional changes progression of the disease. We establish how the variations of these two measures correlate with established biomarkers of cancer progression. The Information Theory measures allow us to identify novel biomarkers for both progressive and relatively more sudden transcriptional changes leading to malignant phenotypes. At the same time, the methodology was able to validate a large number of genes and processes that seem to be implicated in the progression of melanoma and prostate cancer.Conclusions/SignificanceWe thus present a quantitative guiding rule, a new unifying hallmark of cancer: the cancer cell's transcriptome changes lead to measurable observed transitions of Normalized Shannon Entropy values (as measured by high-througput technologies). At the same time, tumor cells increment their divergence from the normal tissue profile increasing their disorder via creation of states that we might not directly measure. This unifying hallmark allows, via the the Jensen-Shannon divergence, to identify the arrow of time of the processes from the gene expression profiles, and helps to map the phenotypical and molecular hallmarks of specific cancer subtypes. The deep mathematical basis of the approach allows us to suggest that this principle is, hopefully, of general applicability for other diseases.

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“…Reduced renal aquaporin expression in experimental UUO is noted within 24 h of complete obstruction [ 134 ]. Similarly, renal aquaporins are downregulated in children undergoing pyeloplasty, and in both human and animal models this reduction is associated with polyuria and reduced concentrating ability following relief of obstruction [ 141 – 143 ].…”

Section: Proposed Molecular Mechanisms Underpinning Pujomentioning

confidence: 99%

The molecular biology of pelvi-ureteric junction obstruction

Jackson

Coward

2017

Pediatr Nephrol

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Over recent years routine ultrasound scanning has identified increasing numbers of neonates as having hydronephrosis and pelvi-ureteric junction obstruction (PUJO). This patient group presents a diagnostic and management challenge for paediatric nephrologists and urologists. In this review we consider the known molecular mechanisms underpinning PUJO and review the potential of utilising this information to develop novel therapeutics and diagnostic biomarkers to improve the care of children with this disorder.

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Expression of renal aquaporins is down-regulated in children with congenital hydronephrosis

Abstract: The expression of AQP1-4 mRNA and protein abundance is reduced in proportion with the degree of hydronephrosis graded by ultrasound in human congenital HK.

Cited by 15 publications

References 22 publications

Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus

Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus

Cancer Biomarker Discovery: The Entropic Hallmark

The molecular biology of pelvi-ureteric junction obstruction

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