Results 61 to 70 of about 46,029 (270)

Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study

Clinical Genetics, EarlyView.
In a multicenter study of 692 patients with kidney disease, a 44‐gene panel achieved a 36% diagnostic yield. The 36% yield was not significantly lower than with larger panels or whole‐exome sequencing. A post hoc machine‐learning model identified key predictors to stratify patients into four risk bins (11%–74% yield), enabling more cost‐effective ...
Silvia Giovanella, Antonio Miguel Poyatos‐Andújar, Maria Mar Aguila Garcia, Almudena Avila‐Fernandez, Ana Bustamante‐Aragonés, Carmen Ayuso, Antonio Percesepe, Davide Martorana, Maria Ferri, Alessandra Terracciano, Laura Massella, Johanna Chester, Francesca Testa, Giulia Ligabue, Marco Ferrarini, Dino Gibertoni, Gaetano Alfano, Elena Tenedini, Lucia Artuso, Marco Marino, Olga Calabrese, Enrico Tagliafico, Riccardo Magistroni   +22 more
wiley   +1 more source

Chinese clinical practice guide for autosomal dominant polycystic kidney disease

Linchuang shenzangbing zazhi, 2019
常染色体显性多囊肾病(autosomal dominant polycystic kidney disease, ADPKD)是最常见的遗传性肾病,患病率为1/400～1/1000[1]。ADPKD主要致病基因有两个,PKD1和PKD2,其突变导致疾病分别约占发病人群的85%和15%[2-3]。该病为常染色体显性遗传病,子代发病机率为50%。患者多在成年后出现双侧肾脏囊肿,随年龄增长,逐渐损害肾脏结构和功能[4 ...
Expert Committee on Clinical Practice Guidelines for Autosomal Dominant Polycystic Kidney Disease
doaj  

Fetal polycystic kidney disease: Pathological overview

Journal of the Scientific Society, 2013
Polycystic kidney disease is a rare developmental anomaly inherited as autosomal dominant or autosomal recessive. It is characterized by cystic dilatation of the collecting ducts frequently associated with hepatic involvement and progression to renal ...
Sunita B Patil, Madhura D Paricharak, Deepak G Paricharak, S S More   +3 more
doaj   +1 more source

Chronic brucellosis with hepatic brucelloma and AA amyloidosis in a patient with autosomal dominant polycystic kidney disease

Autopsy and Case Reports, 2020
We describe an autopsy case of a 45-year-old male diagnosed with autosomal dominant polycystic kidney disease who presented with complaints of altered sensorium.
Arpitha Kollabathula, Vikarn Vishwajeet, Kirti Gupta, Suvradeep Mitra, Vibhav Sharma, Pallab Ray, Ashish Bhalla   +6 more
doaj   +1 more source

Hypertension in autosomal dominant polycystic kidney disease: a meta-analysis [PDF]

, 2016
CONTEXT: Autosomal dominant polycystic kidney disease (ADPKD) is a common disorder that can cause hypertension during childhood, but the true prevalence of hypertension during childhood is not known.
Cuthell, O, Dudley, J, Langan, D, Marlais, M, Sinha, MD, Winyard, PJ   +5 more
core   +1 more source

A Retrospective Cross‐Sectional Study of 142 Patients in a Multidisciplinary Tuberous Sclerosis Clinic

Clinical Genetics, EarlyView.
We found key differences between tuberous sclerosis patients with TSC1 and TSC2 variants. Patients carrying TSC2 variants had more severe and earlier‐onset symptoms. We also identified two distinct clinical subgroups which follow different disease courses: one characterized by predominant renal involvement and the other by more pronounced neurological ...
Hila Weisblum Neuman, Sara Via Dorembus, Omer Shlomovitz, Shoshana Greenberger, Einat Lahav, Sharon Mini‐Goldberger, Michal Tzadok   +6 more
wiley   +1 more source

Pain in Autosomal Dominant Polycystic Kidney Disease [PDF]

European Medical Journal Nephrology, 2014
Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disorder affecting 1 in 1,000 people and is responsible for 10% of cases of end-stage renal disease.
Mariusz Niemczyk
doaj  

Combined Liver and Kidney Transplant in a Patient with Budd-Chiari Syndrome Secondary to Autosomal Dominant Polycystic Kidney Disease Associated with Polycystic Liver Disease: Report of a Case with a 9-Year Follow-Up

Case Reports in Gastrointestinal Medicine, 2014
Polycystic liver disease (PLD) is a hereditary disease inherited by autosomal dominant trait that occurs as a frequent extrarenal manifestation of autosomal dominant polycystic kidney disease (ADPKD).
Patricia Ramírez de la Piscina, Ileana Duca, Silvia Estrada, Rosario Calderón, Idoia Ganchegui, Amaia Campos, Katerina Spicakova, Leire Urtasun, Marta Salvador, Elvira Delgado, Raquel Bengoa, Francisco García-Campos   +11 more
doaj   +1 more source

Posttranslational modifications of phosphodiesterase type 4 enzymes represent novel points for therapeutic targeting

The FEBS Journal, EarlyView.
Enzymes from the phosphodiesterase type 4 family (PDE4) coordinate physiological events driven by the cyclic AMP s(cAMP) signaling pathway by tightly controlling cAMP dynamics in many cell types. Key to this strict regulation is the myriad of posttranslational modifications that alter PDE4 activity, cellular location, and binding partner selection ...
Madihah Hussain, Gonzalo S. Tejeda, George S. Baillie   +2 more
wiley   +1 more source

Autosomal Dominant Polycystic Kidney Disease and Pericardial Effusion

Oman Medical Journal, 2018
The autosomal dominant polycystic kidney disease (ADPKD) accounts for one out of 400–1000 live births, being a hereditary disorder with cystic and noncystic manifestations as well as extrarenal involvement. The pericardial effusion (PE) in the context of
Guillermo Alberto Perez Fernandez, Montaser Y. Ismail   +1 more
doaj   +1 more source