keyword
https://read.qxmd.com/read/38528055/decreased-calcium-permeability-caused-by-biallelic-trpv5-mutation-leads-to-autosomal-recessive-renal-calcium-wasting-hypercalciuria
#1
JOURNAL ARTICLE
Naz Guleray Lafci, Mark van Goor, Semra Cetinkaya, Jenny van der Wijst, Melisa Acun, Fatma Kurt Colak, Arda Cetinkaya, Joost Hoenderop
Hypercalciuria is the most common metabolic risk factor in people with kidney stone disease. Its etiology is mostly multifactorial, although monogenetic causes of hypercalciuria have also been described. Despite the increased availability of genetic diagnostic tests, the vast majority of individuals with familial hypercalciuria remain unsolved. In this study, we investigated a consanguineous pedigree with idiopathic hypercalciuria. The proband additionally exhibited severe skeletal deformities and hyperparathyroidism...
March 25, 2024: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/38507507/renal-autotransplantation-for-uncontrolled-hypertension-in-nonatherosclerotic-renal-artery-stenosis-2-case-reports-and-a-brief-review-of-the-literature
#2
JOURNAL ARTICLE
James Goodman, Spoorthy Kulkarni, Viknesh Selvarajah, Nicholas Hilliard, Neil Russell, Ian B Wilkinson
Fibromuscular dysplasia is the most common cause of renovascular hypertension in young adults under 40 years old. It is potentially amenable to renal artery angioplasty, which frequently normalizes blood pressure. However, limited options exist if angioplasty is not technically possible, or restenosis occurs. Here, we describe 2 patients who presented with hypertension secondary to renal artery stenosis. In the first case, a young adult with hypertension secondary to renal artery stenosis (fibromuscular dysplasia), developed restenosis 11 weeks after an initially successful renal artery angioplasty...
April 2024: Hypertension
https://read.qxmd.com/read/38494324/successful-treatment-of-focal-renal-artery-fibromuscular-dysplasia-by-balloon-dilatation-demonstrated-via-fractional-flow-reserve
#3
Xuhe Gong, Jixuan Liu, Daokuo Yao, Rongchong Huang
We present a rare case of fibromuscular dysplasia (FMD) manifesting in the mid segment of right renal artery, which led to the development of refractory hypertension. The patient received balloon angioplasty to a severe lesion on the middle of right renal artery and subsequently had normalisation of blood pressures. Fractional flow reserve (FFR) detection of the renal artery before and after balloon dilatation was 0.71 and 0.98, respectively. The patient showed renal artery stenosis (RAS) with distal tumour-like dilatation, and multiple tortuosity and stenosis in carotid artery and coronary artery...
November 2023: Clinical Medicine: Journal of the Royal College of Physicians of London
https://read.qxmd.com/read/38469092/a-novel-gata3-frameshift-mutation-causes-hypoparathyroidism-sensorineural-deafness-and-renal-dysplasia-syndrome
#4
JOURNAL ARTICLE
Bo Huang, Shiwei Li, Yun Chai, Yu Fan, Xin Li, Yue Liu, Yunhong Fu, Xixi Song, Jingqiu Cui
BACKGROUND: Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome (Barakat syndrome) is a rare autosomal dominant disorder caused by mutations in the gene encoding GATA3 on chromosome 10p14. METHOD: Informed consent was obtained from a 38-year-old female patient. 5 mL of venous blood was collected and sent for whole-exome sequencing. GATA3 constructs of both wild-type and mutant were transfected into HEK-293 T cells. Three-dimensional modeling, luciferase-reporter gene test, western blotting and cellular immunofluorescence were used to evaluate the effect of the mutation...
March 2024: Molecular Genetics and Metabolism Reports
https://read.qxmd.com/read/38465020/neonatal-renal-failure-following-intrauterine-exposure-to-an-angiotensin-converting-enzyme-inhibitor
#5
Inês Rodrigues, Carolina Quintela, Joana Jardim, Helena Pinto, Susana Pissarra, Henrique Soares, Paulo Soares
The renin-angiotensin-aldosterone system (RAAS) plays a crucial role in the normal development of the fetal kidney. Late pregnancy blockage of the RAAS, through in-utero exposure to angiotensin-converting enzyme inhibitors (ACEIs) or angiotensin II receptor blockers, is associated with poor fetal outcomes, including oligohydramnios, renal tubular dysplasia, postnatal anuric renal failure, and hypotension. The present case describes a 39-year-old primigravida that was referred to the emergency department, at 37 weeks, for the evaluation of intrauterine growth restriction and suspected coarctation of the aorta (CoA)...
February 2024: Curēus
https://read.qxmd.com/read/38459147/neurosurgical-intervention-for-the-meckel-gruber-syndrome-a-systematic-review
#6
REVIEW
Jefferson Heber Marques Fontes Junior, Silvio Porto Junior, Hugo Nunes Pustilnik, Leonardo de Almeida Leão, Matheus Gomes da Silva da Paz, Taiane Brito Araujo, Fernanda Oliveira Gonçalves de Deus, Tancredo Alcântara, Jules Carlos Dourado, Leonardo Miranda de Avellar
INTRODUCTION: Meckel-Gruber Syndrome (MKS) is an autosomal recessive genetic disorder, notable for its triad of occipital encephalocele, polycystic renal dysplasia, and postaxial polydactyly. Identified by Johann Friederich Meckel in 1822, MKS is categorized as a ciliopathy due to gene mutations. Diagnosis is confirmed by the presence of at least two key features. The condition is incompatible with life, leading to death in the womb or shortly after birth. Recent studies have largely focused on the genetic aspects of MKS, with limited information regarding the impact of neurosurgical approaches, particularly in treating encephaloceles...
March 9, 2024: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://read.qxmd.com/read/38451454/-1-h-13-c-and-15-n-backbone-resonance-assignments-of-hepatocyte-nuclear-factor-1-beta-hnf1%C3%AE-pou-s-and-pou-hd
#7
JOURNAL ARTICLE
Sayaka Hokazono, Eri Imagawa, Daishi Hirano, Takahisa Ikegami, Kimihiko Oishi, Tsuyoshi Konuma
Hepatocyte nuclear factor 1β (HNF1β) is a transcription factor that plays a key role in the development and function of the liver, pancreas, and kidney. HNF1β plays a key role in early vertebrate development and the morphogenesis of these organs. In humans, heterozygous mutations in the HNF1B gene can result in organ dysplasia, making it the most common cause of developmental renal diseases, including renal cysts, renal malformations, and familial hypoplastic glomerular cystic kidney disease...
March 7, 2024: Biomolecular NMR Assignments
https://read.qxmd.com/read/38427756/multicystic-renal-dysplasia-a-histomorphological-spectrum-seven-years-experience-from-a-tertiary-care-hospital
#8
JOURNAL ARTICLE
Kanika Gupta, Shramana Mandal, Varuna Mallya, Meeta Singh, Nita Khurana, Yogesh K Sarin
OBJECTIVES: Multicystic dysplastic kidney (MCDK) is defined as the presence of multiple noncommunicating cysts of various sizes, detected sonographically, without evidence of functioning renal parenchyma on dimercaptosuccinic acid renal scan. It has an incidence of 1:4000 live births. They are more commonly diagnosed in boys, usually on the left side, but may also be bilateral. There is the presence of primitive ducts surrounded by fibromuscular connective tissue. These are because of the disturbed connection of the ureteric bud with renal blastema and abnormal division at the stage of metanephros, resulting in an abnormal metanephros differentiation...
February 19, 2024: Indian Journal of Pathology & Microbiology
https://read.qxmd.com/read/38426190/late-onset-cholestasis-with-paucity-of-portal-area-secondary-to-hnf1%C3%AE-deficiency-in-adulthood-a-case-report
#9
Xuemei Zhang, Kun Liu, Xiaona Lu, Wenlan Zheng, Jia Shi, Shihan Yu, Hai Feng, Zhuo Yu
Hepatocyte nuclear factor 1β (HNF1β) is essential for biliary development, while its genetic defect triggers the dysplasia of interlobular bile ducts, leading to life-threatening hepatitis and cholestasis. To date, this disorder has mainly been documented in neonates. Here, we report a case of cholestasis in an adult patient caused by a de novo HNF1β mutation. A liver biopsy revealed remarkable shrinkage of the portal area accompanied by a decrease or absence of interlobular bile ducts, veins, and arteries in the portal area...
March 28, 2024: Journal of Clinical and Translational Hepatology
https://read.qxmd.com/read/38394395/congenital-anomalies-of-kidney-and-urinary-tract-cakut-and-associated-extra-renal-anomalies-in-fetal-autopsies
#10
JOURNAL ARTICLE
Esra Çobankent Aytekin, Cem Y Sanhal, Havva Serap Toru
OBJECTIVES AND BACKGROUND: According to studies, 1% of all pregnancies have an abnormality, with 20-30% of those affecting the genitourinary system. Congenital abnormalities of the kidney and urinary tract (CAKUT) is one of the primary causes of perinatal and neonatal mortality in children. Many extra-renal congenital illnesses accompany these defects, affecting the patient's prognosis. This study aims to determine the subtypes, frequency, and extra-renal defects associated with congenital anomalies of the urinary system, which is the major cause of mortality in fetal and infant autopsies throughout the perinatal and neonatal eras...
November 9, 2023: Indian Journal of Pathology & Microbiology
https://read.qxmd.com/read/38391374/primary-mucinous-adenocarcinoma-of-the-ureter-and-renal-pelvis-a-case-report
#11
JOURNAL ARTICLE
Aparna A N Namshiker, Amala J Kudchadker, R G Wiseman Pinto
Primary adenocarcinoma rarely occurs in the upper urinary tract and accounts for less than 1% of the urothelial tumors. Here we present a case report of a 45-year-old female patient who presented with a lump in the abdomen and pain in the right lumbar region for 2 months. Various radiological investigations revealed right-sided hydronephrosis with enhancing masses in the right proximal ureter and renal pelvis associated with multiple calculi. A gross examination of the right nephrectomy specimen revealed multiple cystic areas filled with mucinous material and papillary projections in the renal pelvis...
February 14, 2024: Indian Journal of Pathology & Microbiology
https://read.qxmd.com/read/38376554/brain-and-spine-malformations-and-neurodevelopmental-disorders-in-a-cohort-of-children-with-cakut
#12
JOURNAL ARTICLE
Silvia Boeri, Monica Bodria, Rosa Maria Ammendola, Thea Giacomini, Domenico Tortora, Lino Nobili, Michela Malacarne, Andrea Rossi, Enrico Verrina, Giorgio Piaggio, Maria Margherita Mancardi, Mariasavina Severino
BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT) represent 20-30% of all birth defects and are often associated with extra-renal malformations. We investigated the frequency of brain/spine malformations and neurological features in children with CAKUT. METHODS: We reviewed the clinico-radiological and genetic data of 199 out of 1,165 children with CAKUT evaluated from 2006 to 2023 (99 males, mean age at MRI 6.4 years) who underwent brain and/or spine MRI...
February 20, 2024: Pediatric Nephrology
https://read.qxmd.com/read/38355203/acute-renal-failure-as-a-key-to-significant-neonatal-weight-loss
#13
JOURNAL ARTICLE
Joana Moscoso, Margarida Serôdio, Ana Rita Prior
We present a case of a male neonate who experienced a 13.5% weight loss at 96 hours of life, despite receiving adequate calorie intake and exhibiting no feeding difficulties. The pregnancy was uneventful, and maternal serological investigation was normal. A routine ultrasound at 34 weeks of gestational age revealed late oligohydramnios. The neonate was delivered at 35 weeks of gestational age by forceps, weighing 2600 g. Physical examination disclosed bilateral cryptorchidism. Laboratory studies unveiled acute kidney injury (AKI) with hyperkalaemia...
February 14, 2024: BMJ Case Reports
https://read.qxmd.com/read/38355094/a-rare-skeletal-dysplasia-in-the-etiology-of-severe-scoliosis-diaphanospondylodysostosis
#14
Tuğba Daşar, Adalet Elçin Yıldız, Gökhan Demirkıran, Gülen Eda Utine, Pelin Özlem Şimşek Kiper
Diaphanospondylodysostosis is a rare genetic skeletal disorder caused by biallelic variants in the BMPER gene. The term, diaphanospondylodysostosis, includes ischiospinal dysotosis, which was previously known as a distinct entity with milder clinical features. The clinical phenotype of diaphanospondylodysostosis is quite variable with mortality in early postnatal life in some patients. Main clinical and radiographic features are narrow thorax, vertebral segmentation defects, rib anomalies, ossification defects of vertebrae, ischium and sacrum, and renal cysts...
February 12, 2024: European Journal of Medical Genetics
https://read.qxmd.com/read/38353206/antibiotic-prophylaxis-in-infants-with-grade-iii-iv-or-v-vesicoureteral-reflux
#15
EDITORIAL
Deepansh Dalela, Bruce Schlomer
No abstract text is available yet for this article.
February 14, 2024: Journal of Urology
https://read.qxmd.com/read/38303642/survival-of-infants-with-severe-congenital-kidney-disease-after-ecmo-and-kidney-support-therapy
#16
JOURNAL ARTICLE
Kara Short, Martha McBride, Scott Anderson, Rachel Miller, Daryl Ingram, Carl Coghill, Brian Sims, David Askenazi
Congenital kidney failure not only affects the homeostatic functions of the kidney, but also affects neonatal respiratory integrity. Until recently, extracorporeal membrane oxygenation (ECMO) support was not used in this population because the need for ECMO clearly established nonviability. Since 2016, 31 neonates have been admitted to the NICU at Children's of Alabama with congenital kidney failure. Five patients were placed on ECMO for severe respiratory distress unresponsive to conventional interventions...
February 2, 2024: Pediatrics
https://read.qxmd.com/read/38273375/a-renal-aplasia-case-mimicking-radiologically-as-unilateral-renal-agenesis-in-a-child-with-spina-bifida-atresia-ani-and-unilateral-undescended-testis-a%C3%A2-case-report
#17
JOURNAL ARTICLE
Prahara Yuri, Muhammad Anwar Irzan, Tanaya Ghinorawa, Muchamad Ridotu Solichin, Ery Kus Dwianingsih
BACKGROUND: As a result of the failure of embryogenic kidney formation, a condition can occur where not a single kidney appears and this phenomenon is known as unilateral renal agenesis (URA). Both aplastic and dysplastic kidney are different from renal agenesis, atrophy and renal hypoplasia. However, from this case report it can be seen that there are similarities, both radiologically and macroscopically, between cases of unilateral renal aplasia and renal agenesis. CASE PRESENTATION: A 2 year old Javanese boy came to the health facility with complaints of recurrent fever and urinary tract symptoms such as dysuria and straining...
January 26, 2024: Journal of Medical Case Reports
https://read.qxmd.com/read/38267217/sirenomelia-an-anatomical-assessment-and-genetic-sex-determination-of-two-cases
#18
JOURNAL ARTICLE
Stephanie L Vander Pol, Jennifer J MacKenzie, Karen J Harrison, Conrad W Reifel, Roger M L Smith, Logan Bale, Stephen C Pang, Sherry A M Taylor
The etiology of sirenomelia is currently unknown. Data are limited in comparing external and internal abnormalities using modern imaging technologies and molecular genetic analysis. The purpose of the current study was designed to compare external and internal anatomical defects in two cases of sirenomelia and Potter's sequence. Considered rare, Potter's sequence is a fetal disorder with characteristic features of bilateral renal agenesis, obstructive uropathy, atypical facial appearance, and limb malformations...
January 24, 2024: Journal of Anatomy
https://read.qxmd.com/read/38254980/the-pathophysiology-of-inherited-renal-cystic-diseases
#19
REVIEW
Matthew Satariano, Shaarav Ghose, Rupesh Raina
Renal cystic diseases (RCDs) can arise from utero to early adulthood and present with a variety of symptoms including renal, hepatic, and cardiovascular manifestations. It is well known that common RCDs such as autosomal polycystic kidney disease and autosomal recessive kidney disease are linked to genes such as PKD1 and PKHD1, respectively. However, it is important to investigate the genetic pathophysiology of how these gene mutations lead to clinical symptoms and include some of the less-studied RCDs, such as autosomal dominant tubulointerstitial kidney disease, multicystic dysplastic kidney, Zellweger syndrome, calyceal diverticula, and more...
January 11, 2024: Genes
https://read.qxmd.com/read/38249238/a-systematic-review-is-early-fluid-restriction-in-preterm-neonates-going-to-prevent-bronchopulmonary-dysplasia
#20
REVIEW
Suresh Kumar Yadav Bollaboina, Ashok Kumar Urakurva, Saritha Kamsetti, Rakesh Kotha
Preterm birth causes constant challenges, with bronchopulmonary dysplasia (BPD) being a major concern. Immediately after birth, it takes time to establish feeding between the mother and the premature baby. During this time, the telological shifting of fluid from extracellular space to intracellular space will help the baby; this transition should be smooth. Both normal physiologic changes and pathophysiologic events are capable of disrupting this delicate fluid shifting that occurs in very low-birth-weight infants during the first week of life...
December 2023: Curēus
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