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Genetic kidney disease

Yong-Qing Tong, Bei Liu, Chao-Hong Fu, Hong-Yun Zheng, Jian Gu, Hang Liu, Hong-Bo Luo, Yan Li
PKHD1 gene mutations are found responsible for autosomal recessive polycystic kidney disease (ARPKD). However, it is inconvenient to detect the mutations by common polymerase chain reaction (PCR) because the open reading frame of PKHD1 is very long. Recently, long-range (LR) PCR is demonstrated to be a more sensitive mutation screening method for PKHD1 by directly sequencing. In this study, the entire PKHD1 coding region was amplified by 29 reactions to avoid the specific PCR amplification of individual exons, which generated the size of 1 to 7 kb products by LR PCR...
October 2016: Journal of Huazhong University of Science and Technology. Medical Sciences
Jem Ma Ahn, Chang Ha Kim, Soon Ho Um, Kyung Mee Kim, Tae Hyung Kim, Sun Young Yim, Hyuk Soon Choi, Eun Sun Kim, Bora Keum, Yeon Seok Seo, Hyung Joon Yim, Yoon Tae Jeen, Hong Sik Lee, Hoon Jai Chun, Chang Duck Kim, Ho Sang Ryu
BACKGROUND AND AIM: In a recent study, microsatellite variations (GCA tandem repeats) in the promoter region of the (kidney-type) glutaminase gene were associated with the development of hepatic encephalopathy (HE) in Spanish patients with cirrhosis. The objective of this study was to validate the relation between microsatellite variations in the glutaminase promoter region and the development of overt HE in Korean patients with liver cirrhosis. METHODS: We performed a prospective cohort study of 154 cirrhotic patients who underwent a glutaminase microsatellite study without previous overt HE history at baseline...
October 17, 2016: Journal of Gastroenterology and Hepatology
Shinya Kawamoto, Ryo Koda, Atsunori Yoshino, Tetsuro Takeda, Yoshihiko Ueda
Medullary cystic kidney disease (MCKD) is a hereditary disease associated with bilateral medullary polycysts and interstitial fibrosis. MCKD is typically associated with slowly progressive renal dysfunction. We herein report two rare elderly cases with enlarged kidneys and rapidly progressive renal dysfunction without myeloperoxidase anti-neutrophil cytoplasmic antibody (MPO-ANCA), PR3-ANCA, or anti-glomerular basement membrane (GBM) antibodies. Renal biopsies revealed extensive tubular dilatation and atrophy with interstitial fibrosis consistent with MCKD...
2016: Internal Medicine
Emmanuel Gonzales, Tim Ulinski, Dalila Habes, Georges Deschênes, Véronique Frémeaux-Bacchi, Albert Bensman
BACKGROUND: Rational options for the treatment of end-stage renal disease (ESRD) due to atypical hemolytic uremic syndrome (aHUS) in children are still open to discussion. In the case of human complement factor H (CFH) deficiency, the choice is either kidney transplantation in combination with eculizumab, a humanized anti-C5 monoclonal antibody, or a combined liver-kidney transplantation. CASE-DIAGNOSIS/TREATMENT: A child with a homozygous CFH deficiency underwent a successful liver-kidney transplantation...
October 15, 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
Emma Hitchcock, William T Gibson
Here we review the current understanding of the genetic architecture of intracranial berry aneurysms (IBA) to aid in the genetic counseling of patients at risk for this condition. The familial subtype of IBA, familial intracranial aneurysms (FIA), is associated with increased frequency of IBA, increased risk of rupture, and increased morbidity and mortality after rupture. Family history is the strongest predictor for the development of IBA. However, a genetic test is not yet available to assess risk within a family...
October 14, 2016: Journal of Genetic Counseling
Sylva Skalova, Stepan Kutilek
Transient hyperphosphatasemia of infancy and early childhood (THI) is characterized by transiently increased activity of serum alkaline phosphatase (S-ALP), predominantly its bone or liver isoform, in children under five years of age. There are no signs of metabolic bone disease or hepatopathy corresponding with the increased S-ALP. THI is benign disorder, rather laboratory than clinical disorder, which is usually accidentally detected in both healthy and sick children. When encountered in a child with either chronic bone, liver or kidney disease, it might concern the physician...
July 2016: Jornal Brasileiro de Nefrologia: ʹorgão Oficial de Sociedades Brasileira e Latino-Americana de Nefrologia
Karolína Drbalová, Kateřina Herdová, Petr Krejčí, Monika Nývltová, Svatopluk Solař, Lenka Vedralová, Pavel Záruba, David Netuka, Petr Bavor
Multiple Endocrine Neoplasia (MEN) is a condition in which several endocrine organs of an individual are affected by adenoma, hyperplasia and less often carcinoma, either simultaneously or at different stages of life. Two existing syndromes, MEN1 and MEN2 (2A, 2B), in literature is also mentioned MEN4, are associated also with other non-endocrine disorders. MEN1 (Wermer syndrome) affects the pituitary, parathyroid, and pancreatic area. 95 % of patients show very early manifestation of hyperparathyroidism, often before 40 years of age...
2016: Vnitr̆ní Lékar̆ství
Monika Gradzik, Mariusz Niemczyk, Marek Gołębiowski, Leszek Pączek
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic disorders caused by a single gene mutation. The disease usually manifests itself at the age of 30-40 years and is characterized by formation of renal cysts along with the enlargement of kidneys and deterioration of their function, eventually leading to renal insufficiency. Imaging studies (sonography, computed tomography, magnetic resonance imaging) play an important role in the diagnostics of the disease, the monitoring of its progression, and the detection of complications...
2016: Polish Journal of Radiology
Johannes Münch, Maik Grohmann, Tom H Lindner, Carsten Bergmann, Jan Halbritter
BACKGROUND: Patients on renal replacement therapy are often unaware of their underlying condition and hence suffer from so-called end-stage renal disease (ESRD) of unknown origin. However, an exact diagnosis is not only important for better estimating the prognosis, but also when preparing for kidney transplantation. Whilst patients with FSGS without a confirmed genetic cause have a high recurrence rate in the transplanted organ, patients with a mutation generally exhibit no recurrence and have a good prognosis...
October 12, 2016: BMC Medical Genetics
Hedwig M A D'Agnolo, Wietske Kievit, Kim N van Munster, Jouke J H Vd Laan, Frederik Nevens, Joost P H Drenth
BACKGROUND: Polycystic liver disease (PLD) is a rare genetic disorder with progressive cyst growth as the primary phenotype. Therapy consists of volume reduction through invasive surgical or radiological procedures. In order to understand the process of treatment decision, our aim was to identify factors that increased the likelihood of treatment. STUDY DESIGN: We performed a cross-sectional study using an international population of PLD patients. We collected data on the following therapies: liver transplantation, resection, fenestration and aspiration sclerotherapy...
October 12, 2016: Transplant International: Official Journal of the European Society for Organ Transplantation
Hyunsuk Kim, Young-Hwan Hwang
In light of the advances in the understanding of cystogenesis in clinical syndromes, potential therapeutic targets have been proposed. Among ciliopathies, autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary disease, and is characterized by the progressive enlargement of bilateral renal cysts, resulting in end-stage kidney failure. Progress in genetics and molecular pathobiology has enabled the development of therapeutic agents that can modulate aberrant molecular pathways. Recently, clinical trials using somatostatin analogs and vasopressin receptor antagonists were conducted, and resulted in the approval of tolvaptan in managing kidney disease in some countries...
2016: Advances in Experimental Medicine and Biology
Do Yeon Kim, Jong Hoon Park
Autosomal dominant polycystic kidney disease is caused by mutation of PKD1 (polycystic kidney disease-1) or PKD2 (polycystic kidney disease-2). PKD1 and PKD2 encode PC1 (polycystin-1) and PC2 (polycystin-2), respectively. In addition, the mutation of cilia-associated proteins is also a recognized major factor of pathogenesis, since PC1 and PC2 are located in primary cilium. Abnormalities of PC1 or PC2 lead to aberrant signaling through downstream pathways, such as the negative growth regulation, G protein activation, and canonical and non-canonical Wnt pathways...
2016: Advances in Experimental Medicine and Biology
Afshin Parsa, Peter A Kanetsky, Rui Xiao, Jayanta Gupta, Nandita Mitra, Sophie Limou, Dawei Xie, Huichun Xu, Amanda Hyre Anderson, Akinlolu Ojo, John W Kusek, Claudia M Lora, L Lee Hamm, Jiang He, Niina Sandholm, Janina Jeff, Dominic E Raj, Carsten A Böger, Erwin Bottinger, Shabnam Salimi, Rulan S Parekh, Sharon G Adler, Carl D Langefeld, Donald W Bowden, Per-Henrik Groop, Carol Forsblom, Barry I Freedman, Michael Lipkowitz, Caroline S Fox, Cheryl A Winkler, Harold I Feldman
The rate of decline of renal function varies significantly among individuals with CKD. To understand better the contribution of genetics to CKD progression, we performed a genome-wide association study among participants in the Chronic Renal Insufficiency Cohort Study. Our outcome of interest was CKD progression measured as change in eGFR over time among 1331 blacks and 1476 whites with CKD. We stratified all analyses by race and subsequently, diabetes status. Single-nucleotide polymorphisms (SNPs) that surpassed a significance threshold of P<1×10(-6) for association with eGFR slope were selected as candidates for follow-up and secondarily tested for association with proteinuria and time to ESRD...
October 11, 2016: Journal of the American Society of Nephrology: JASN
Linda Cook
Over the last 10 years, the number of identified polyomaviruses has grown to more than 35 subtypes, including 13 in humans. The polyomaviruses have similar genetic makeup, including genes that encode viral capsid proteins VP1, 2, and 3 and large and small T region proteins. The T proteins play a role in viral replication and have been implicated in viral chromosomal integration and possible dysregulation of growth factor genes. In humans, the Merkel cell polyomavirus has been shown to be highly associated with integration and the development of Merkel cell cancers...
August 2016: Microbiology Spectrum
Amy Geard, Gift D Pule, David Chelo, Valentina Josiane Ngo Bitoungui, Ambroise Wonkam
Sickle cell disease (SCD) vastly impacts the African continent and is associated with cardiovascular diseases. Stroke, kidney disease, and pulmonary hypertension are considered as proxies of severity in SCD with several genomic loci implicated in their heritability. The present expert review examined the current data on epidemiology and genetic risk factors of stroke, pulmonary hypertension, and kidney disease associated with SCD, as indexed in PubMed(®) and Google Scholar(®). Studies collectively show that stroke and kidney disease each affect ∼10% of SCD patients, with pulmonary hypertension displaying a higher prevalence of 30% among adults with SCD...
October 2016: Omics: a Journal of Integrative Biology
Michael J Randles, Sophie Collinson, Tobias Starborg, Aleksandr Mironov, Mira Krendel, Eva Königshausen, Lorenz Sellin, Ian S D Roberts, Karl E Kadler, Jeffrey H Miner, Rachel Lennon
Glomeruli are highly sophisticated filters and glomerular disease is the leading cause of kidney failure. Morphological change in glomerular podocytes and the underlying basement membrane are frequently observed in disease, irrespective of the underlying molecular etiology. Standard electron microscopy techniques have enabled the identification and classification of glomerular diseases based on two-dimensional information, however complex three-dimensional ultrastructural relationships between cells and their extracellular matrix cannot be easily resolved with this approach...
October 11, 2016: Scientific Reports
Eun-Sil Park, Michio Suzuki, Masanobu Kimura, Hiroshi Mizutani, Ryuichi Saito, Nami Kubota, Youko Hasuike, Jungo Okajima, Hidemi Kasai, Yuko Sato, Noriko Nakajima, Keiji Maruyama, Koichi Imaoka, Shigeru Morikawa
BACKGROUND: Feline morbillivirus (FmoPV) is a novel paramyxovirus found to infect domestic cats. FmoPV has been isolated in several countries in Asia and Europe and is considered to have genetic diversity. Also, it is suspected to be associated with feline renal diseases including tubulointerstitial nephritis (TIN), which affects domestic cats with a high incidence rate. RESULTS: To clarify the state of FmoPV infection among domestic cats in Japan, an epidemiological survey was conducted...
October 11, 2016: BMC Veterinary Research
Michelle H T Ta, Kristina G Schwensen, Sheryl Foster, Mayuresh Korgaonkar, Justyna E Ozimek-Kulik, Jacqueline K Phillips, Anthony Peduto, Gopala K Rangan
The disease-modifying effects of target of rapamycin complex 1 (TORC1) inhibitors during different stages of polycystic kidney disease (PKD) are not well defined. In this study, male Lewis Polycystic Kidney Disease (LPK) rats (a genetic ortholog of human NPHP9, phenotypically characterised by diffuse distal nephron cystic growth) and Lewis controls received either vehicle (V) or sirolimus (S, 0.2 mg/kg by intraperitoneal injection 5 days per week) during the early (postnatal weeks 3 to 10) or late stages of disease (weeks 10 to 20)...
2016: PloS One
Tanja Kersnik Levart, Dušan Ferluga, Alenka Vizjak, Jerica Mraz, Nika Kojc
BACKGROUND: Understanding the role of alternative complement pathway dysregulation in membranoproliferative glomerulonephritis (MPGN) has led to a dramatic shift in its classification into two subgroups: immune complex-mediated MPGN and complement-mediated MPGN, consisting of dense deposit disease and C3 glomerulonephritis (C3GN). A limited number of C3GN cases have been published to date with not yet conclusive results since the novel therapeutic approach with eculizumab was introduced...
October 7, 2016: Diagnostic Pathology
Rebecca J Brown, David Araujo-Vilar, Pik To Cheung, David Dunger, Abhimanyu Garg, Michelle Jack, Lucy Mungai, Elif A Oral, Nivedita Patni, Kristina Rother, Julia von Schnurbein, Ekaterina Sorkina, Takara Stanley, Corinne Vigouroux, Martin Wabitsch, Rachel Williams, Tohru Yorifuji
OBJECTIVE: Lipodystrophy syndromes are extremely rare disorders of deficient body fat associated with potentially serious metabolic complications, including diabetes, hypertriglyceridemia, and steatohepatitis. Due to their rarity, most clinicians are not familiar with their diagnosis and management. This practice guideline summarizes diagnosis and management of lipodystrophy syndromes not associated with HIV or injectable drugs. PARTICIPANTS: Seventeen participants were nominated by worldwide endocrine societies or selected by the committee as content experts...
October 6, 2016: Journal of Clinical Endocrinology and Metabolism
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