Journal of clinical investigation, ISSN 0021-9738, 2012, Volume 122, Issue 12, pp. 4375 - 4387
Integrins are transmembrane αβ glycoproteins that connect the extracellular matrix to the cytoskeleton. The laminin-binding integrin α3β1 is expressed at high...
Lung Diseases, Interstitial - metabolism | Humans | Protein Multimerization | Protein Processing, Post-Translational - genetics | Nephrotic Syndrome - metabolism | Endoplasmic Reticulum - metabolism | Infant | Nephrotic Syndrome - genetics | Integrin alpha3 - metabolism | Lung Diseases, Interstitial - diagnosis | Glomerular Mesangium - metabolism | Proteolysis | Base Sequence | Fatal Outcome | Female | Nephrotic Syndrome - diagnosis | Gene Expression | Integrin alpha3 - genetics | Podocytes - metabolism | Tetraspanin 24 - metabolism | Genetic Association Studies | Cells, Cultured | Models, Molecular | Nephrotic Syndrome - pathology | Glycosylation | Sequence Analysis, DNA | Integrin beta1 - metabolism | Point Mutation | Glomerular Mesangium - pathology | Lung Diseases, Interstitial - genetics | Pedigree | Proteasome Endopeptidase Complex - metabolism | Integrin beta1 - genetics
Lung Diseases, Interstitial - metabolism | Humans | Protein Multimerization | Protein Processing, Post-Translational - genetics | Nephrotic Syndrome - metabolism | Endoplasmic Reticulum - metabolism | Infant | Nephrotic Syndrome - genetics | Integrin alpha3 - metabolism | Lung Diseases, Interstitial - diagnosis | Glomerular Mesangium - metabolism | Proteolysis | Base Sequence | Fatal Outcome | Female | Nephrotic Syndrome - diagnosis | Gene Expression | Integrin alpha3 - genetics | Podocytes - metabolism | Tetraspanin 24 - metabolism | Genetic Association Studies | Cells, Cultured | Models, Molecular | Nephrotic Syndrome - pathology | Glycosylation | Sequence Analysis, DNA | Integrin beta1 - metabolism | Point Mutation | Glomerular Mesangium - pathology | Lung Diseases, Interstitial - genetics | Pedigree | Proteasome Endopeptidase Complex - metabolism | Integrin beta1 - genetics
Journal Article
Pediatric nephrology (Berlin, Germany), ISSN 0931-041X, 2019, Volume 34, Issue 1, pp. 183 - 183
Journal Article
Kidney International, ISSN 0085-2538, 12/2019, Volume 96, Issue 6, pp. 1389 - 1399
Primary hyperoxaluria type 2 is a rare inherited disorder of glyoxylate metabolism causing nephrocalcinosis, renal stone formation and ultimately kidney...
PH2 | oxalate | clinical outcome | CKD | primary hyperoxaluria type 2
PH2 | oxalate | clinical outcome | CKD | primary hyperoxaluria type 2
Journal Article
Pediatric Nephrology, ISSN 0931-041X, 2018, Volume 33, Issue 1, pp. 63 - 64
Journal Article
Clinical journal of the American Society of Nephrology, ISSN 1555-905X, 2015, Volume 10, Issue 10, pp. 1773 - 1782
Dense deposit disease (DDD), a subtype of C3 glomerulopathy, is a rare disease affecting mostly children. Treatment options are limited. Debate exists whether...
UROLOGY & NEPHROLOGY | PATIENT | HEMOLYTIC-UREMIC SYNDROME | C3 GLOMERULOPATHY | MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS | CHILDREN | Glomerulonephritis, Membranoproliferative - pathology | Antibodies, Monoclonal, Humanized - therapeutic use | Glomerular Filtration Rate | Urine - cytology | Humans | Child, Preschool | Male | Leukocytes | Nephrotic Syndrome - drug therapy | Creatinine - urine | Glomerulonephritis, Membranoproliferative - drug therapy | Proteinuria - drug therapy | Glomerulonephritis, Membranoproliferative - physiopathology | Adolescent | Complement Inactivating Agents - therapeutic use | Creatinine - blood | Female | Child | Complement C5 - antagonists & inhibitors | Nephrotic Syndrome - etiology | Proteinuria - etiology | dense deposit disease | C3 nephritic factor | C3 glomerulopathy | glomerulonephritis | complement | Original | membranoproliferative
UROLOGY & NEPHROLOGY | PATIENT | HEMOLYTIC-UREMIC SYNDROME | C3 GLOMERULOPATHY | MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS | CHILDREN | Glomerulonephritis, Membranoproliferative - pathology | Antibodies, Monoclonal, Humanized - therapeutic use | Glomerular Filtration Rate | Urine - cytology | Humans | Child, Preschool | Male | Leukocytes | Nephrotic Syndrome - drug therapy | Creatinine - urine | Glomerulonephritis, Membranoproliferative - drug therapy | Proteinuria - drug therapy | Glomerulonephritis, Membranoproliferative - physiopathology | Adolescent | Complement Inactivating Agents - therapeutic use | Creatinine - blood | Female | Child | Complement C5 - antagonists & inhibitors | Nephrotic Syndrome - etiology | Proteinuria - etiology | dense deposit disease | C3 nephritic factor | C3 glomerulopathy | glomerulonephritis | complement | Original | membranoproliferative
Journal Article
Journal of Pediatric Gastroenterology and Nutrition, ISSN 0277-2116, 2018, Volume 67, Issue 4, pp. 533 - 537
Objectives: Alterations in body compositions are strongly associated with poor outcomes in end-stage renal disease patients. Hence, assessment of lean body...
Free fat mass | Overhydration | Dual x-ray absorptiometry | Malnutrition | Stable isotopes | KIDNEY-DISEASE | free fat mass | stable isotopes | overhydration | RISK | DEATH | CHILDREN | malnutrition | NUTRITION & DIETETICS | NUTRITIONAL-STATUS | PEDIATRICS | dual x-ray absorptiometry | GASTROENTEROLOGY & HEPATOLOGY | FLUID STATUS | Usage | Care and treatment | Chronic kidney failure | Patient outcomes | Hemodialysis patients | Impedance spectroscopy | Pediatric research | Health aspects
Free fat mass | Overhydration | Dual x-ray absorptiometry | Malnutrition | Stable isotopes | KIDNEY-DISEASE | free fat mass | stable isotopes | overhydration | RISK | DEATH | CHILDREN | malnutrition | NUTRITION & DIETETICS | NUTRITIONAL-STATUS | PEDIATRICS | dual x-ray absorptiometry | GASTROENTEROLOGY & HEPATOLOGY | FLUID STATUS | Usage | Care and treatment | Chronic kidney failure | Patient outcomes | Hemodialysis patients | Impedance spectroscopy | Pediatric research | Health aspects
Journal Article
American Journal of Kidney Diseases, ISSN 0272-6386, 2016, Volume 69, Issue 3, pp. 428 - 435
Background Assessment of hydration status in patients with chronic kidney failure treated by dialysis is crucial for clinical management decisions. Dilution...
Nephrology | stable isotopes | adolescents | extracellular water (ECW) | fluid overload | isotope ratio mass spectrometry | multi-frequency bioimpedance measurement | pediatric | body composition | deuterium dilution | total body water (TBW) | Hydration status | children | bromide dilution | fluid status | hemodialysis | renal failure | peritoneal dialysis | body composition monitor (BCM) | MORTALITY | PERITONEAL-DIALYSIS | BLOOD-PRESSURE | BIOELECTRICAL-IMPEDANCE ANALYSIS | DILUTION | KIDNEY-DISEASE | MANAGEMENT | SPECTROSCOPY | HEMODIALYSIS-PATIENTS | UROLOGY & NEPHROLOGY | TOTAL-BODY WATER | Humans | Adolescent | Child, Preschool | Female | Male | Electric Impedance | Intracellular Fluid | Body Water | Child | Renal Dialysis
Nephrology | stable isotopes | adolescents | extracellular water (ECW) | fluid overload | isotope ratio mass spectrometry | multi-frequency bioimpedance measurement | pediatric | body composition | deuterium dilution | total body water (TBW) | Hydration status | children | bromide dilution | fluid status | hemodialysis | renal failure | peritoneal dialysis | body composition monitor (BCM) | MORTALITY | PERITONEAL-DIALYSIS | BLOOD-PRESSURE | BIOELECTRICAL-IMPEDANCE ANALYSIS | DILUTION | KIDNEY-DISEASE | MANAGEMENT | SPECTROSCOPY | HEMODIALYSIS-PATIENTS | UROLOGY & NEPHROLOGY | TOTAL-BODY WATER | Humans | Adolescent | Child, Preschool | Female | Male | Electric Impedance | Intracellular Fluid | Body Water | Child | Renal Dialysis
Journal Article
Pediatric nephrology (Berlin, Germany), ISSN 0931-041X, 2018, Volume 33, Issue 1, pp. 65 - 69
Rapidly progressive glomerulonephritis | Pediatrics | Nephrology | Medicine & Public Health | Urology | Post-infectious glomerulonephritis | C3 glomerulonephritis | Acute Disease | Diagnosis, Differential | Glomerulonephritis - therapy | Antibodies, Monoclonal, Humanized - therapeutic use | Kidney - pathology | Humans | Renal Dialysis - methods | Glomerulonephritis - diagnosis | Female | Streptococcal Infections - complications | Child | Kidney Function Tests | Glomerulonephritis | Development and progression | Care and treatment | Diagnosis | Pharyngitis | Dilemma | Clinical Quiz
Journal Article
Pediatric nephrology (Berlin, Germany), ISSN 0931-041X, 2018, Volume 33, Issue 1, pp. 63 - 64
Glomerulonephritis | Pediatrics | Nephrology | Medicine & Public Health | Macroscopic hematuria | Acute kidney injury | Urology | Diagnosis, Differential | Kidney - pathology | Humans | Glomerulonephritis - diagnosis | Female | Glomerulonephritis - complications | Child | Acute Kidney Injury - etiology | Complications and side effects | Care and treatment | Dilemma | Urinary tract infections | Dosage and administration | Diagnosis | Acute renal failure | Clavulanate | Clinical Quiz
Journal Article
European Journal of Pediatrics, ISSN 0340-6199, 04/2017, Volume 176, Issue 4, pp. 515 - 519
This report describes a novel mutation of LAMB2, the gene associated with Pierson syndrome (microcoria-congenital nephrosis syndrome), in two female siblings....
Pierson syndrome | Ocular abnormalities | Nephrotic syndrome | Pediatrics, Perinatology, and Child Health | LAMB2 | Journal Article | Pediatrics | Medicine & Public Health | Renal Insufficiency - surgery | Kidney - pathology | Humans | Child, Preschool | Kidney Glomerulus - pathology | Eye Abnormalities - genetics | Laminin - genetics | Nephrotic Syndrome | Retina - diagnostic imaging | Phenotype | Eye Abnormalities - pathology | Nephrectomy | Renal Insufficiency - pathology | Tomography, Optical | Female | Mutation | Child | Pupil Disorders | Retina - pathology | Abnormalities, Multiple - genetics | Siblings | Original
Pierson syndrome | Ocular abnormalities | Nephrotic syndrome | Pediatrics, Perinatology, and Child Health | LAMB2 | Journal Article | Pediatrics | Medicine & Public Health | Renal Insufficiency - surgery | Kidney - pathology | Humans | Child, Preschool | Kidney Glomerulus - pathology | Eye Abnormalities - genetics | Laminin - genetics | Nephrotic Syndrome | Retina - diagnostic imaging | Phenotype | Eye Abnormalities - pathology | Nephrectomy | Renal Insufficiency - pathology | Tomography, Optical | Female | Mutation | Child | Pupil Disorders | Retina - pathology | Abnormalities, Multiple - genetics | Siblings | Original
Journal Article
Frontiers in immunology, ISSN 1664-3224, 2019, Volume 10, Issue JUN, p. 1350
C3 glomerulopathy (C3G) is an umbrella classification for severe renal diseases characterized by predominant staining for complement component C3 in the...
C3 nephritic factor | GLOMERULOPATHY | HEMOLYTIC-UREMIC SYNDROME | COMPLEMENT ACTIVATION | complement system | C3 glomerulopathy | therapy | C-3 | convertase | IMMUNOLOGY | DEFICIENCY | alternative pathway | TICK SALIVARY PROTEIN | DENSE DEPOSIT DISEASE | properdin | Salp20 | OUTCOMES | MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS | FACTOR C3NEF | Glomerulonephritis | Care and treatment | Usage | Medical examination | Properdin | Research | Blood | Autoantibodies
C3 nephritic factor | GLOMERULOPATHY | HEMOLYTIC-UREMIC SYNDROME | COMPLEMENT ACTIVATION | complement system | C3 glomerulopathy | therapy | C-3 | convertase | IMMUNOLOGY | DEFICIENCY | alternative pathway | TICK SALIVARY PROTEIN | DENSE DEPOSIT DISEASE | properdin | Salp20 | OUTCOMES | MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS | FACTOR C3NEF | Glomerulonephritis | Care and treatment | Usage | Medical examination | Properdin | Research | Blood | Autoantibodies
Journal Article
Journal of Pediatric Gastroenterology and Nutrition, ISSN 0277-2116, 2018, Volume 67, Issue 4, pp. 533 - 537
Objectives: Alterations in body compositions are strongly associated with poor outcomes in end-stage renal disease patients. Hence, assessment of lean body...
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d_article_not_yet_freely_accessible
Journal Article
13.
Microsurgery for “wrist” arteriovenous fistula creation in children: a retrospective cohort study
Journal of Vascular Access, ISSN 1129-7298, 03/2018, Volume 19, Issue 2, pp. 137 - 140
Journal Article
PLoS ONE, ISSN 1932-6203, 2012, Volume 7, Issue 11, p. e49735
Background: Patients with unilateral MultiCystic Kidney Dysplasia (MCKD) or unilateral renal agenesis (URA) have a congenital solitary functioning kidney...
UNILATERAL RENAL AGENESIS | GENE | MULTIDISCIPLINARY SCIENCES | SIZE | DISEASE | RISK | HYPERTENSION | WEIGHT | VARIANT | BLOOD-PRESSURE | CHILDREN | Kidney - physiology | Kidney Diseases - physiopathology | Animals | Kidney - pathology | Swine | Kidney Glomerulus - metabolism | Nephrons - physiology | Risk | Models, Statistical | Observer Variation | Disease Models, Animal | Hypertrophy - physiopathology | Hypertension | Dysplasia | Genetic disorders | Kidney diseases | Statistics | Hypertrophy | Nephrology | Kidneys | Congenital diseases | Syngeneic grafts | Health risks | Patients | Hogs | Pathology | Weight control | Ultrasonic imaging | Cardiovascular diseases | Hyperfiltration | Expansion | Proteinuria | Enlargement | Kidney transplantation
UNILATERAL RENAL AGENESIS | GENE | MULTIDISCIPLINARY SCIENCES | SIZE | DISEASE | RISK | HYPERTENSION | WEIGHT | VARIANT | BLOOD-PRESSURE | CHILDREN | Kidney - physiology | Kidney Diseases - physiopathology | Animals | Kidney - pathology | Swine | Kidney Glomerulus - metabolism | Nephrons - physiology | Risk | Models, Statistical | Observer Variation | Disease Models, Animal | Hypertrophy - physiopathology | Hypertension | Dysplasia | Genetic disorders | Kidney diseases | Statistics | Hypertrophy | Nephrology | Kidneys | Congenital diseases | Syngeneic grafts | Health risks | Patients | Hogs | Pathology | Weight control | Ultrasonic imaging | Cardiovascular diseases | Hyperfiltration | Expansion | Proteinuria | Enlargement | Kidney transplantation
Journal Article
15.
Microsurgery for "wrist" arteriovenous fistula creation in children: a retrospective cohort study
The journal of vascular access, 11/2017
Creating functional arteriovenous fistulae (AVF) at the wrist is challenging in paediatric patients because of the small calibre of the blood vessels. We...
Journal Article
European journal of pediatrics, ISSN 0340-6199, 2017, Volume 176, Issue 4, pp. 515 - 519
This report describes a novel mutation of LAMB2, the gene associated with Pierson syndrome (microcoria-congenital nephrosis syndrome), in two female siblings....
Pierson syndrome | Ocular abnormalities | GENE | LAMB2 | PIERSON-SYNDROME | PEDIATRICS | Nephrotic syndrome | SPECTRUM
Pierson syndrome | Ocular abnormalities | GENE | LAMB2 | PIERSON-SYNDROME | PEDIATRICS | Nephrotic syndrome | SPECTRUM
Journal Article
Frontiers in Immunology, ISSN 1664-3224, 06/2019, Volume 10
C3 glomerulopathy (C3G) is an umbrella classification for severe renal diseases characterized by predominant staining for complement component C3 in the...
C3 nephritic factor | GLOMERULOPATHY | HEMOLYTIC-UREMIC SYNDROME | COMPLEMENT ACTIVATION | complement system | C3 glomerulopathy | therapy | C-3 | convertase | DEFICIENCY | alternative pathway | TICK SALIVARY PROTEIN | DENSE DEPOSIT DISEASE | properdin | Salp20 | OUTCOMES | MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS | FACTOR C3NEF
C3 nephritic factor | GLOMERULOPATHY | HEMOLYTIC-UREMIC SYNDROME | COMPLEMENT ACTIVATION | complement system | C3 glomerulopathy | therapy | C-3 | convertase | DEFICIENCY | alternative pathway | TICK SALIVARY PROTEIN | DENSE DEPOSIT DISEASE | properdin | Salp20 | OUTCOMES | MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS | FACTOR C3NEF
Journal Article
18.
Microsurgery for "wrist" arteriovenous fistula creation in children: a retrospective cohort study
JOURNAL OF VASCULAR ACCESS, ISSN 1129-7298, 03/2018, Volume 19, Issue 2, pp. 137 - 140
Introduction: Creating functional arteriovenous fistulae (AVF) at the wrist is challenging in paediatric patients because of the small calibre of the blood...
SURGERY | Arteriovenous fistula | CHRONIC-HEMODIALYSIS | Microsurgery | PERIPHERAL VASCULAR DISEASE | Haemodialysis | OUTCOMES
SURGERY | Arteriovenous fistula | CHRONIC-HEMODIALYSIS | Microsurgery | PERIPHERAL VASCULAR DISEASE | Haemodialysis | OUTCOMES
Journal Article
Nephron. Physiology, ISSN 1660-8151, 2013, Volume 123, Issue 3-4, pp. 7 - 14
Background/Aims: Mutations in the inwardly-rectifying K(+)-channel KCNJ10/Kir4.1 cause autosomal recessive EAST syndrome (epilepsy, ataxia, sensorineural...
Gitelman syndrome | SeSAME | KCNJ10 | Kir4.1 | Inward rectifier | Tubulopathy | EAST syndrome | Potassium channel | Kidney | DISTAL CONVOLUTED TUBULE | POTASSIUM CHANNELS | KIR4.1 | EAST SYNDROME | SENSORINEURAL DEAFNESS | UROLOGY & NEPHROLOGY | RECTIFYING K+ CHANNEL | ANOMALOUS RECTIFICATION | SESAME/EAST SYNDROME | BASOLATERAL MEMBRANE | SUBUNIT | Xenopus | Hearing Loss, Sensorineural - metabolism | Seizures - genetics | Oocytes - metabolism | Humans | Protein Multimerization | Intellectual Disability - pathology | Hearing Loss, Sensorineural - pathology | Genotype | Potassium Channels, Inwardly Rectifying - genetics | Seizures - metabolism | Hearing Loss, Sensorineural - genetics | Potassium Channels, Inwardly Rectifying - chemistry | Sequence Analysis, DNA | Intellectual Disability - genetics | Intellectual Disability - metabolism | Point Mutation | Patch-Clamp Techniques | Animals | Seizures - pathology | Alanine - genetics | Female | Valine - genetics | Potassium Channels, Inwardly Rectifying - metabolism
Gitelman syndrome | SeSAME | KCNJ10 | Kir4.1 | Inward rectifier | Tubulopathy | EAST syndrome | Potassium channel | Kidney | DISTAL CONVOLUTED TUBULE | POTASSIUM CHANNELS | KIR4.1 | EAST SYNDROME | SENSORINEURAL DEAFNESS | UROLOGY & NEPHROLOGY | RECTIFYING K+ CHANNEL | ANOMALOUS RECTIFICATION | SESAME/EAST SYNDROME | BASOLATERAL MEMBRANE | SUBUNIT | Xenopus | Hearing Loss, Sensorineural - metabolism | Seizures - genetics | Oocytes - metabolism | Humans | Protein Multimerization | Intellectual Disability - pathology | Hearing Loss, Sensorineural - pathology | Genotype | Potassium Channels, Inwardly Rectifying - genetics | Seizures - metabolism | Hearing Loss, Sensorineural - genetics | Potassium Channels, Inwardly Rectifying - chemistry | Sequence Analysis, DNA | Intellectual Disability - genetics | Intellectual Disability - metabolism | Point Mutation | Patch-Clamp Techniques | Animals | Seizures - pathology | Alanine - genetics | Female | Valine - genetics | Potassium Channels, Inwardly Rectifying - metabolism
Journal Article
Frontiers in Immunology, ISSN 1664-3224, 2019, Volume 10, Issue JUN
C3 glomerulopathy (C3G) is an umbrella classification for severe renal diseases characterized by predominant staining for complement component C3 in the...
Journal Article
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