scholarly journals New PAX2 Mutation Associated with Polycystic Kidney Disease: A Case Report

2021 ◽  
Vol 15 ◽  
pp. 117955652199235
Author(s):  
Jessica Maria Forero-Delgadillo ◽  
Vanessa Ochoa ◽  
Natalia Duque ◽  
Jaime Manuel Restrepo ◽  
Hernando Londoño ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Novel Mutation ◽  
Clinical Manifestations ◽  
Renal Cysts ◽  
Renal Dysplasia ◽  
Cystic Kidney Disease ◽  
Cystic Kidney ◽  
Incomplete Penetrance ◽  
Wide Range ◽  
Stage Renal Disease

Background: Congenital anomalies of the kidney and urinary tract (CAKUT) are the leading cause of end stage renal disease in children. Diagnosis by genetic testing has proven challenging due to its genetic and phenotypic heterogeneity, as well as incomplete penetrance. We report a case on a 16-months old female with a history of renal cysts and a PAX2 mutation. Case presentation: The patient presented with a prenatal diagnosis of Potter sequence and a postnatal diagnosis of renal cysts. An ultrasound at 20 weeks gestation revealed right renal agenesis and possible left renal dysplasia. Post natal genetic analyses identified a novel mutation in PAX2. Conclusion: Cystic kidney disease is often underdiagnosed due to its variable expressivity and wide range of clinical manifestations; PAX2 genetic screening should be considered for all patients with CAKUT.

scholarly journals Uncontrolled hypertension and hyperreninemia after hemorrhage in a patient with end-stage renal disease and acquired renal cysts.

1994 ◽  
Vol 5 (1) ◽  
pp. 22-26
Author(s):  
S Bongu ◽  
P F Faubert ◽  
J G Porush ◽  
F Gulmi
Keyword(s):  
Kidney Disease ◽  
Esrd Patient ◽  
Renal Cysts ◽  
Cystic Kidney Disease ◽  
Uncontrolled Hypertension ◽  
Cystic Kidney ◽  
First Case ◽  
Acquired Cystic Kidney Disease ◽  
Perinephric Hematoma ◽  
Stage Renal Disease

Acquired cystic kidney disease occurs in over 74% of patients with ESRD on hemodialysis for more than 4 yr. A variety of complications have been associated with these cysts including bleeding, lithiasis, infection, obstruction, and malignant transformation. An ESRD patient who developed accelerating hypertension secondary to an acute perinephric hematoma due to a bleeding-acquired renal cyst is described. The hypertension, which was refractory to aggressive drug therapy, was controlled only after the involved kidney was removed, after the demonstration of an elevated ipsilateral renal vein renin level. This is the first case reported in which worsening hypertension, apparently due to the "Page Kidney," developed as a complication of perinephric bleeding in an ESRD patient with acquired cystic kidney disease.

scholarly journals Activation of Notch3 in Renal Tubular Cells Leads to Progressive Cystic Kidney Disease

2022 ◽  
Vol 23 (2) ◽  
pp. 884
Author(s):  
Sonja Djudjaj ◽  
Panagiotis Kavvadas ◽  
Niki Prakoura ◽  
Roman D. Bülow ◽  
Tiffany Migeon ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Notch Signaling ◽  
Kidney Diseases ◽  
Genetic Disorder ◽  
Renal Cysts ◽  
Cystic Kidney Disease ◽  
Cystic Kidney ◽  
Renal Tubules ◽  
Renal Tubular Cells ◽  
Stage Renal Disease

Background: Polycystic kidney disease (PKD) is a genetic disorder affecting millions of people worldwide that is characterized by fluid-filled cysts and leads to end-stage renal disease (ESRD). The hallmarks of PKD are proliferation and dedifferentiation of tubular epithelial cells, cellular processes known to be regulated by Notch signaling. Methods: We found increased Notch3 expression in human PKD and renal cell carcinoma biopsies. To obtain insight into the underlying mechanisms and the functional consequences of this abnormal expression, we developed a transgenic mouse model with conditional overexpression of the intracellular Notch3 (ICN3) domain specifically in renal tubules. We evaluated the alterations in renal function (creatininemia, BUN) and structure (cysts, fibrosis, inflammation) and measured the expression of several genes involved in Notch signaling and the mechanisms of inflammation, proliferation, dedifferentiation, fibrosis, injury, apoptosis and regeneration. Results: After one month of ICN3 overexpression, kidneys were larger with tubules grossly enlarged in diameter, with cell hypertrophy and hyperplasia, exclusively in the outer stripe of the outer medulla. After three months, mice developed numerous cysts in proximal and distal tubules. The cysts had variable sizes and were lined with a single- or multilayered, flattened, cuboid or columnar epithelium. This resulted in epithelial hyperplasia, which was observed as protrusions into the cystic lumen in some of the renal cysts. The pre-cystic and cystic epithelium showed increased expression of cytoskeletal filaments and markers of epithelial injury and dedifferentiation. Additionally, the epithelium showed increased proliferation with an aberrant orientation of the mitotic spindle. These phenotypic tubular alterations led to progressive interstitial inflammation and fibrosis. Conclusions: In summary, Notch3 signaling promoted tubular cell proliferation, the alignment of cell division, dedifferentiation and hyperplasia, leading to cystic kidney diseases and pre-neoplastic lesions.

Phthalate Esters, Cystic Kidney Disease in Animals and Possible Effects on Human Health: A Review

1990 ◽  
Vol 9 (6) ◽  
pp. 397-401 ◽  
Author(s):  
K.N. Woodward
Keyword(s):  
Kidney Disease ◽  
Human Health ◽  
Phthalate Esters ◽  
Renal Cysts ◽  
Cystic Kidney Disease ◽  
Cystic Kidney ◽  
Peroxisome Proliferation ◽  
Peroxisome Proliferators ◽  
Prolonged Administration ◽  
Route Of Exposure

1 Phthalate esters are known to cause hepatic peroxisome proliferation in rodents and, after prolonged administration, hepatocarcinogenesis. Peroxisome proliferators as a group are hepatocarcinogenic. The mechanism is not known but it does not appear to involve a direct genotoxic element. 2 DEHP and DBP have been shown to cause renal cysts in rodents and they also produce renal peroxisome proliferation. There are no data to causally link the two phenomena. 3 Although renal cysts have been noted in haemodialysis patients and haemodialysis is a route of exposure to DEHP, there are no data to suggest a cause and effect relationship. 4 More studies are needed on the mechanism of renal cystogenesis.

scholarly journals Nephronophthisis and medullary cystic kidney disease complex

2005 ◽  
Vol 62 (9) ◽  
pp. 683-688
Author(s):  
Marijana Stanisic ◽  
Rajko Hrvacevic ◽  
Zoran Paunic ◽  
Stanko Petrovic
Keyword(s):  
Renal Failure ◽  
Kidney Disease ◽  
Ultrasound Examination ◽  
Clinical Manifestations ◽  
Cystic Kidney Disease ◽  
Cystic Kidney ◽  
Laboratory Findings ◽  
Disease Complex ◽  
Terminal Renal Failure ◽  
Medullary Cystic Kidney Disease

Background. Nephronophthisis and medullary cystic kidney disease complex refers to the genetic heterogeneous group of inherited tubulointerstital nephritis. Nephronophthisis comprises at last 3 clinical manifestations, has the autosomal recessive pattern of inheritance, appears early in life and is the most frequent inherited kidney disease that causes terminal renal failure in childhood, while medullary cystic kidney disease has the autosomal dominant pattern of inheritance, is less frequent, and terminal renal failure appears later in life. These two forms have similar clinical and morphological findings but extrarenal manifestations, the median ages of occurrence of terminal renal failure, and siblings presence help us distinguish these diseases. Case report. In this article we illustrated the case of a 20- years old patient with the suspicion of having complex nephornophthisis and medullary cystic kidney disease based upon mild renal failure, seen in routinely taken laboratory findings and bilateral cysts in corticomedullary region of the kidneys verified on abdominal ultrasound examination. Conclusion. This disease should rise suspicion in children or adolescents with progressive renal failure, a typical clinical manifestation, blood and urine samples results, bilateral cysts in the corticomedullary region of the kidneys seen during ultrasound examination of the kidneys and family inheritance.

scholarly journals Prevalence of primary renal diseases among patients on maintenance haemodialysis: a hospital based study

KYAMC Journal ◽  
2013 ◽  
Vol 2 (2) ◽  
pp. 182-186
Author(s):  
ST Ahmed ◽  
MA Rahim ◽  
Z Ali ◽  
MM Iqbal
Keyword(s):  
Kidney Disease ◽  
Renal Disease ◽  
End Stage Renal Disease ◽  
Cystic Kidney Disease ◽  
Cystic Kidney ◽  
Renal Diseases ◽  
Socioeconomic Condition ◽  
Co Morbidity ◽  
Stage Renal Disease ◽  
End Stage

Background: Chronic Kidney Disease (CKD) is the third most common non-communicable disease throughout the world. Studies have shown that kidney patients suffer much from hypertension, diabetes than glomerulonephritis. Many of these CKD patients ultimately terminate to End Stage Renal Disease (ESRD) when life is not sustainable unless hemodialysis is initiated. Aim: The aim of this study was to identify primary renal disease leading to ESRD requiring hemodialysis and associated co-morbidities. Material and methods: Data was collected purposively from selected six hemodialysis centers. Patients were selected purposively who were available at the time of interview. Data was collected on working days at three shifts After taking informed consent from patients the pre-tested questionnaire was filled up by taking general history, family history, socioeconomic condition, drug history and available records were reviewed for collecting previous biochemical parameters. All entered data were analyzed by using SPSS program version 13.0. Result: Among total 393 subjects, male was 247(63%) and female 146 (37%). Majority were middle aged. Glomerulonephritis were found to be the leading cause of End Stage Renal Disease (ESRD) (50.4%), followed by diabetes in 31.1%, Poly Cystic Kidney Disease (PKD) 5.3%, Renal Stone in 3.7% and rest other. Among the study population hypertension was the most common co morbidity disease (63%) followed by ischemic heart disease and Cerebrovascular accidents. Conclusion: Glomerulonephritis was found to be the leading cause of End Stage Renal Disease (ESRD) and diabetic nephropathy was the second common cause. Hypertension was the most common associated co morbid disease. To evaluate the actual disease pattern a large scale study is required to find the outcome of haemodialysis patients.DOI: http://dx.doi.org/10.3329/kyamcj.v2i2.13262KYAMC Journal Vol.2(2) January 2012, 182-186

scholarly journals Ttc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polycystic kidney disease

2021 ◽  
Vol 118 (39) ◽  
pp. e2106770118
Author(s):  
Maike Getwan ◽  
Anselm Hoppmann ◽  
Pascal Schlosser ◽  
Kelli Grand ◽  
Weiting Song ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Renal Cysts ◽  
Cystic Kidney Disease ◽  
Cystic Kidney ◽  
Cartilage Defects ◽  
Disease Genes ◽  
Embryonic Mouse ◽  
Cystic Kidneys ◽  
Jeune Syndrome ◽  
Sensenbrenner Syndrome

Skeletal ciliopathies (e.g., Jeune syndrome, short rib polydactyly syndrome, and Sensenbrenner syndrome) are frequently associated with nephronophthisis-like cystic kidney disease and other organ manifestations. Despite recent progress in genetic mapping of causative loci, a common molecular mechanism of cartilage defects and cystic kidneys has remained elusive. Targeting two ciliary chondrodysplasia loci (ift80 and ift172) by CRISPR/Cas9 mutagenesis, we established models for skeletal ciliopathies in Xenopus tropicalis. Froglets exhibited severe limb deformities, polydactyly, and cystic kidneys, closely matching the phenotype of affected patients. A data mining–based in silico screen found ttc30a to be related to known skeletal ciliopathy genes. CRISPR/Cas9 targeting replicated limb malformations and renal cysts identical to the models of established disease genes. Loss of Ttc30a impaired embryonic renal excretion and ciliogenesis because of altered posttranslational tubulin acetylation, glycylation, and defective axoneme compartmentalization. Ttc30a/b transcripts are enriched in chondrocytes and osteocytes of single-cell RNA-sequenced embryonic mouse limbs. We identify TTC30A/B as an essential node in the network of ciliary chondrodysplasia and nephronophthisis-like disease proteins and suggest that tubulin modifications and cilia segmentation contribute to skeletal and renal ciliopathy manifestations of ciliopathies in a cell type–specific manner. These findings have implications for potential therapeutic strategies.

scholarly journals Autosomal dominant polycystic kidney disease

2008 ◽  
Vol 136 (Suppl. 4) ◽  
pp. 340-347
Author(s):  
Steva Pljesa
Keyword(s):  
Kidney Disease ◽  
Autosomal Dominant ◽  
Renal Cysts ◽  
Diagnostic Methods ◽  
Cystic Kidney Disease ◽  
Cystic Kidney ◽  
Na Channel ◽  
Somatostatin Analogue ◽  
Ca Channel ◽  
Angiotensin Ii Receptor

Autosomal dominant polycystic kiney disease is a hereditary systemic disorder, characterized by the developement of cysts, mainly in the kidney and liver, also with gastrointestinal and cardiovascular abnormalities. It affects 4 to 6 million people wordwide and accounts for end-stage renal disease in 7-10% of dialysis patients. The genetic penetrance is 100%, all affected individuals develop renal cysts until 70 years of age, and because of a great renal function reserve only about 50% of patients develop some degree of renal failure until the age of 60. Autosomal dominant polycystic kiney disease is a heterogeneous disorder, from a clinical as well as from a genetic point of view. There are at least three genes responsible for the disease: PKD-1 gene localized on chromosome 16p in the 16p13.3 segment which encodes Polycystin 1 protein similar to membrane receptor, PKD-2 gene localized on chromosome 4q in 4q13-23 segment which encodes Polycystin 2 protein wery similar to voltage L type Ca++ channel as well as Na+ channel and PKD-3 gene of unknown localization. Specific proteins participate in regulation od cell proliferation, apoptosis, secretion, polarity, cell-matrix interactions as cell-cell interactions and lead to the developement of cystic kidney disease. Renal manifestations of disease include structural (cyst development), functional (concentration alility falls), endocrine (renin erythropoietin) abnormalities and extra- renal manifestations. A routine diagnostic methods are good case-history about cystic kidney disease in family, ultrasonographic examination of kidneys and computerized tomography. In therapy of autosomal dominant polycystic kiney disease, low protein diets may help, treatment of arterial hypertension with ACE inhibitors and angiotensin II receptor blockers, the vasopressin V2 antagonists (VSR), rapamycin and long-acting somatostatin analogue may have some benefit.

scholarly journals Clinical utility of genetic testing in the precision management of pediatric patients with kidney disease

Kidney360 ◽  
2020 ◽  
pp. 10.34067/KID.0002272020
Author(s):  
Nasim Bekheirnia ◽  
Kevin E. Glinton ◽  
Linda Rossetti ◽  
Joshua Manor ◽  
Wuyan Chen ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Kidney Disease ◽  
Clinical Laboratory ◽  
Diagnostic Yield ◽  
Single Gene ◽  
Genetic Diagnosis ◽  
Cystic Kidney Disease ◽  
Cystic Kidney ◽  
Chromosomal Microarray ◽  
Wide Range

Background: As genetic testing increasingly integrates into the practice of nephrology, our understanding of the basis of many kidney disorders has exponentially increased. Given this, we recently initiated a Renal Genetics Clinic (RGC) at our large, urban children's hospital for patients with kidney disorders. Methods: Genetic testing was performed in Clinical Laboratory Improvement Amendments (CLIA) certified laboratories using single gene testing, multi-gene panels, chromosomal microarray (CMA), or exome sequencing (ES). Results: A total of 192 patients were evaluated in this clinic, with cystic kidney disease (49/192) being the most common reason for referral followed by Congenital Anomalies of the Kidney and Urinary Tract (CAKUT: 41/192) and hematuria (38/192). Genetic testing was performed for 158 patients with an overall diagnostic yield of 81/158 (51.3%). In the patients who reached a genetic diagnosis, 16/81 (19.7%), medical or surgical treatment of the patients were impacted, and in 12/81 (14.8%), previous clinical diagnoses were changed to more accurate genetic diagnoses. Conclusions: Such testing provided an accurate diagnosis for children and in some cases led to further diagnosis in seemingly asymptomatic family members and changes to overall medical management. Genetic testing, as facilitated by such a specialized clinical setting, thus appears to have clear utility in the diagnosis and counseling of patients with a wide range of kidney manifestations.

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