629 results match your criteria Medullary Sponge Kidney

X-Linked Spinal Muscular Atrophy 2 due to a Synonymous Variant in the Gene in a Family with Novel Findings from Turkey.

Mol Syndromol 2022 May 4;13(3):246-253. Epub 2022 Feb 4.

Department of Medical Genetics, Medical Faculty, Adiyaman University, Adiyaman, Turkey.

Spinal muscular atrophy, X-linked 2 (SMAX2) is a rare type of spinal muscular atrophy characterized by muscle weakness, hypotonia, areflexia, myopathic face, tongue fibrillations, contractures, bone fractures, and cryptorchidism. Variants of the gene lead to SMAX2. The gene encodes a protein that activates the ubiquitin pathway which is responsible for protein degradation. Read More

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The presence of simple renal cysts is associated with an increased risk of albuminuria in young adults.

Korean J Intern Med 2022 Mar 7;37(2):425-433. Epub 2021 Dec 7.

Division of Nephrology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

Background/aims: The prevalence of simple renal cysts increases with age; however, they are occasionally found in adults aged < 40 years. This cross-sectional study evaluated the clinical significance of simple cysts in young adults, focusing on their associations with hematuria and albuminuria.

Methods: Adults aged < 40 years who underwent comprehensive medical examination between January 2005 and December 2013 were included. Read More

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Sphingomyelin and Medullary Sponge Kidney Disease: A Biological Link Identified by Omics Approach.

Front Med (Lausanne) 2021 26;8:671798. Epub 2021 May 26.

Renal Unit, Department of Medicine, University-Hospital of Verona, Verona, Italy.

Molecular biology has recently added new insights into the comprehension of the physiopathology of the medullary sponge kidney disease (MSK), a rare kidney malformation featuring nephrocalcinosis and recurrent renal stones. Pathogenesis and metabolic alterations associated to this disorder have been only partially elucidated. Plasma and urine samples were collected from 15 MSK patients and 15 controls affected by idiopathic calcium nephrolithiasis (ICN). Read More

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Primary Hyperaldosteronism and Renal Medullary Nephrocalcinosis: A Controversial Association.

Oman Med J 2021 May 31;36(3):e266. Epub 2021 May 31.

Department of Endocrinology, Sher-i-Kashmir Institute of Medical Sciences, Kashmir, India.

Primary hyperaldosteronism (PA) is a common disease with a prevalence of 5-10% in unselected patients with hypertension. Medullary nephrocalcinosis is a radiological diagnosis and refers to diffuse calcification in the renal parenchyma. The three commonest causes of nephrocalcinosis are hyperparathyroidism, distal renal tubular acidosis, and medullary sponge kidney. Read More

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Marginal parent donors-Process and ethics.

Pediatr Transplant 2021 Aug 2;25(5):e14062. Epub 2021 Jun 2.

Department of Ethics, London Health Sciences Centre, London, ON, Canada.

Background: Pre-emptive kidney transplantation for end-stage kidney disease in children has many advantages and may lead to the consideration of marginal parent donors.

Methods: Using the example of the transplant of a kidney with medullary sponge disease from a parent to the child, we review the ethical framework for working up such donors.

Results: The four principles of health ethics include autonomy (the right of the patient to retain control over his/her own body); beneficence (healthcare providers must do all they can do to benefit the patient in each situation); non-maleficence ("first do no harm"-providers must consider whether other people or society could be harmed by a decision made, even if it is made for the benefit of an individual patient) and justice (there should be an element of fairness in all medical decisions). Read More

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Considerations for utilizing medullary sponge kidney allografts in pediatric patients.

Pediatr Transplant 2021 Jun 3;25(4):e13992. Epub 2021 Apr 3.

Division of Pediatric Nephrology, Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons, New York, NY, USA.

Background: Medullary sponge kidney (MSK) disease predisposes patients to recurrent nephrolithiasis, which affects one in every 5000 people in the United States.

Methods: We report a rare case of a pediatric recipient of a living donor MSK transplant and discuss considerations when discussing risks and benefits of accepting MSK allografts for this population.

Results: The recipient was admitted due to concerns for nephrolithiasis, hydronephrosis, and urinary tract infection at 1-month post-transplant. Read More

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Hypertension in a patient with medullary sponge kidney: A case report.

Medicine (Baltimore) 2021 Jan;100(3):e24305

Department of Cardiology, First Affiliated Hospital of Dalian Medical University, Dalian, Liaoning, China.

Rationale: Medullary sponge kidney (MSK) is a congenital renal disorder characterized by recurrent nephrolithiasis or nephrocalcinosis. Recently, it has been found that MSK can be also combined with other diseases, such as primary aldosteronism and Beckwith-Wiedemann, but whether it is associated with secondary hypertension remains unknown.

Patient Concerns: A 22-year-old hypertensive female presented to our hospital characterized by hypokalemia and hypertension. Read More

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January 2021

Variable Expressivity of HNF1B Nephropathy, From Renal Cysts and Diabetes to Medullary Sponge Kidney Through Tubulo-interstitial Kidney Disease.

Kidney Int Rep 2020 Dec 7;5(12):2341-2350. Epub 2020 Oct 7.

Division of Nephrology and Dialysis, Department of Medical and Surgical Specialties, Radiological Sciences, and Public Health, University of Brescia and ASST Spedali Civili of Brescia, Brescia Italy.

Introduction: In humans, heterozygous mutations of hepatocyte nuclear factor 1beta (HNF1B) are responsible for a dominant inherited disease with both renal and extrarenal phenotypes. HNF1B nephropathy is the umbrella term that includes the various kidney phenotypes of the disease, ranging from congenital anomalies of the kidney and urinary tract (CAKUT), to tubular transport abnormalities, to chronic tubulointerstitial and cystic renal disease.

Methods: We describe 7 families containing 13 patients with ascertained HNF1B nephropathy. Read More

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December 2020

Ultrasound to address medullary sponge kidney: a retrospective study.

BMC Nephrol 2020 10 12;21(1):430. Epub 2020 Oct 12.

U.O. Nefrologia, Azienda Ospedaliero-Universitaria di Parma, Dipartimento di Medicina e Chirurgia, Università di Parma, Via Gramsci 14, 43126, Parma, Italy.

Background: Medullary sponge kidney (MSK) is a rare disease characterized by cystic dilatation of papillary collecting ducts. Intravenous urography is still considered the gold standard for diagnosis. We identified a cohort of patients from our outpatient clinic with established diagnosis of MSK to outline some ultrasonographic characteristics that may help establish a diagnosis. Read More

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October 2020

Ambiguous clear cell carcinoma in medullary sponge kidney: A case report.

Asian J Urol 2020 Oct 13;7(4):369-372. Epub 2019 Sep 13.

Department of Urology, The First Affiliated Hospital of Guangxi Medical University, Nanning, China.

Medullary sponge kidney (MSK) is a characteristic renal malformation, with a relatively low incidence. Radiologically, identification of MSK is sometimes ambiguous when compared to a renal mass. Here, we report a novel renal clear cell carcinoma in MSK, and discuss our approach to treatment. Read More

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October 2020

Abdominal Pain in a Patient with Asymmetry.

Kidney360 2020 Apr 30;1(4):314-315. Epub 2020 Apr 30.

Division of Pediatric Nephrology, University of Miami Miller School of Medicine, Miami, Florida.

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[Ultrasound screening and follow-up study of congenital anomalies of the kidney and urinary tract in neonates].

Beijing Da Xue Xue Bao Yi Xue Ban 2019 Dec;51(6):1062-1066

Department of Ultrasound, Beijing Tsinghua Changgung Hospital Affiliated to Tsinghua University, Beijing 102218, China.

Objective: To investigate the incidence of congenital anomalies of the kidney and urinary tract (CAKUT) in neonates, and to evaluate the value of urinary ultrasound screening in the early postnatal period.

Methods: The neonates born or treated in Beijing Tsinghua Changgung Hospital affiliated to Tsinghua University between January 2016 and December 2018 accepted the urinary ultrasound screening, and the neonates with problem were followed up. In the meanwhile, the maternal pregnancy data were analyzed to screen out the risk factors associated with the onset of CAKUT. Read More

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December 2019

Proteomic Analysis of Urinary Extracellular Vesicles Reveals a Role for the Complement System in Medullary Sponge Kidney Disease.

Int J Mol Sci 2019 Nov 5;20(21). Epub 2019 Nov 5.

Renal Unit, Department of Medicine, University/Hospital of Verona, Piazzale A. Stefani 1, 37126 Verona, Italy.

Medullary sponge kidney (MSK) disease is a rare and neglected kidney condition often associated with nephrocalcinosis/nephrolithiasis and cystic anomalies in the precalyceal ducts. Little is known about the pathogenesis of this disease, so we addressed the knowledge gap using a proteomics approach. The protein content of microvesicles/exosomes isolated from urine of 15 MSK and 15 idiopathic calcium nephrolithiasis (ICN) patients was investigated by mass spectrometry, followed by weighted gene coexpression network analysis, support vector machine (SVM) learning, and partial least squares discriminant analysis (PLS-DA) to select the most discriminative proteins. Read More

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November 2019

Medullary Sponge Kidney: Current Perspectives.

Int J Nephrol Renovasc Dis 2019 26;12:213-218. Epub 2019 Sep 26.

Department of Medicine, Division of Pulmonary Critical Care and Sleep Medicine, Stony Brook University Hospital, Stony Brook, NY, USA.

Medullary Sponge Kidney (MSK) disease is a rare congenital malformation of the distal nephron where cystic dilatation is appreciable in the collecting ducts and renal papillae. Most cases of the malformation are thought to arise from a malfunction within neurotrophic factor and tyrosine kinase interactions. Presentation and prognosis are usually indolent; however, they include urinary tract infections (UTI), nephrolithiasis and nephrocalcinosis, distal renal tubular acidosis (dRTA) and hypocitraturia. Read More

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September 2019

Phosphate matters when investigating hypercalcemia: a mutation in SLC34A3 causing HHRH

Endocrinol Diabetes Metab Case Rep 2019 Jul 26;2019(1):1-6. Epub 2019 Jul 26.

Division of Endocrinology, Department of Medicine, University of Calgary, Calgary, Alberta, Canada

Summary: Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare, autosomal recessive disorder caused by mutations in the SLC34A3 gene that encodes the renal sodium-dependent phosphate cotransporter 2c (NaPi-IIc). It may present as intermittent mild hypercalcemia which may attract initial diagnostic attention but appreciation of concomitant hypophosphatemia is critical for consideration of the necessary diagnostic approach. A 21-year-old woman was assessed by adult endocrinology for low bone mass. Read More

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The impact of potassium citrate therapy in the natural course of Medullary Sponge Kidney with associated nephrolithiasis.

Arch Ital Urol Androl 2019 Jul 2;91(2). Epub 2019 Jul 2.

Urology Unit, Department of Surgery, Ospedale Ca' Foncello, Treviso.

Objectives: The present study was carried out to evaluate the effectiveness of medical therapy with potassium citrate in preventing calculosis complicating Medullary Sponge Kidney (MSK) without renal acidification defects.

Materials And Methods: In a open, uncontrolled, retrospective analysis, 49 MSK patients with nephrolithiasis without renal tubular acidosis, underwent a complete metabolic evaluation and received potassium citrate therapy 4-6 g/day. The course of stone disease before and after citrate therapy was determined in each patient from a combination of clinical history, past records, radiographs and kidney ultrasound. Read More

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Trends in surgical management of multicystic dysplastic kidney at USA children's hospitals.

J Pediatr Urol 2019 Aug 30;15(4):368-373. Epub 2019 Apr 30.

Division of Urology, Nationwide Children's Hospital, Columbus, OH, USA; Center for Surgical Outcomes Research, Nationwide Children's Hospital, Columbus, OH, USA.

Introduction And Objective: Multicystic dysplastic kidney (MCDK) is a congenital renal cystic disease often incidentally diagnosed in children. Historically, children with MCDK underwent early nephrectomy because of concerns for the development of hypertension or malignancy. Over the last decade, management recommendations have not supported routine early surgical removal of MCDK. Read More

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Proteomic Analysis of Urinary Microvesicles and Exosomes in Medullary Sponge Kidney Disease and Autosomal Dominant Polycystic Kidney Disease.

Clin J Am Soc Nephrol 2019 06 24;14(6):834-843. Epub 2019 Apr 24.

Renal Unit, Department of Medicine, University Hospital of Verona, Verona, Italy; and

Background And Objectives: Microvesicles and exosomes are involved in the pathogenesis of autosomal dominant polycystic kidney disease. However, it is unclear whether they also contribute to medullary sponge kidney, a sporadic kidney malformation featuring cysts, nephrocalcinosis, and recurrent kidney stones. We addressed this knowledge gap by comparative proteomic analysis. Read More

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Magnetic resonance imaging of fibropolycystic liver disease: the spectrum of ductal plate malformations.

Abdom Radiol (NY) 2019 06;44(6):2156-2171

Radiology Unit, Department of Diagnostic and Therapeutic Services, IRCCS ISMETT (Mediterranean Institute for Transplantation and Advanced Specialized Therapies), Via Tricomi 5, 90127, Palermo, Italy.

Fibropolycystic liver diseases, also known as ductal plate malformations, are a group of associated congenital disorders resulting from abnormal development of the biliary ductal system. These disorders include congenital hepatic fibrosis, biliary hamartomas, polycystic liver disease, choledochal cysts and Caroli disease. Recently, it has been thought to include biliary atresia in this group of diseases, because ductal plate malformations could be implicated in the pathogenesis of this disease. Read More

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Nephrocalcinosis in adolescent girl with medullary sponge kidney and mild hemihypertrophy: A case report.

Medicine (Baltimore) 2019 Feb;98(7):e14529

Department of Pediatric Nephrology.

Rationale: Medullary sponge kidney (MSK) is a rare congenital abnormality characterized by cystic dilatation of the medullary collecting tubules. The disorder is likely to be complicated by nephrocalcinosis, urolithiasis, tubular dysfunctions, and urinary tract infections. In addition, it may be rarely associated with extrarenal anomalies. Read More

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February 2019

Heterozygous Pkhd1 mice develop cystic liver disease and proximal tubule ectasia that mimics radiographic signs of medullary sponge kidney.

Am J Physiol Renal Physiol 2019 03 2;316(3):F463-F472. Epub 2019 Jan 2.

Department of Medicine, The University of Alabama at Birmingham , Birmingham, Alabama.

Heterozygosity for human polycystic kidney and hepatic disease 1 ( PKHD1) mutations was recently associated with cystic liver disease and radiographic findings resembling medullary sponge kidney (MSK). However, the relevance of these associations has been tempered by a lack of cystic liver or renal disease in heterozygous mice carrying Pkhd1 gene trap or exon deletions. To determine whether heterozygosity for a smaller Pkhd1 defect can trigger cystic renal disease in mice, we generated and characterized mice with the predicted truncating Pkhd1 mutation in a region corresponding to the middle of exon 20 cluster of five truncating human mutations (between PKHD1 and PKHD1). Read More

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Medullary sponge kidney and Caroli's disease in a patient with stricture urethra: look for the hidden in presence of the apparent.

BMJ Case Rep 2018 Dec 3;11(1). Epub 2018 Dec 3.

Department of Urology, King George's Medical University, Lucknow, Uttar Pradesh, India.

Caroli's disease is a rare congenital disorder with incidence rate of approximately 1 in 1 000 000 population. Renal anomalies which may be associated with Caroli's disease include medullary sponge kidney (MSK), cortical cysts, adult recessive polycystic kidney disease and rarely autosomal dominant polycystic kidney disease. Exact incidence of MSK in patients of Caroli's disease is not known. Read More

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December 2018

Urinary proteome in inherited nephrolithiasis.

Urolithiasis 2019 Feb 18;47(1):91-98. Epub 2018 Dec 18.

Chair of Nephrology, Department of Translational Medicine, University of Campania "Luigi Vanvitelli", Naples, Italy.

In the last decades, proteomics has been largely applied to the Nephrology field, with the double aim to (1) elucidate the biological processes underlying renal diseases; (2) identify disease-specific biomarkers, predictor factors of therapeutic efficacy and prognostic factors of disease progression. Kidney stone disease, and in particular, inherited nephrolithiasis (INL) are not an exception. Given the multifactorial origin of these disorders, the combination of genomics and proteomics studies may complement each other, with the final objective to give a global and comprehensive mechanistic view. Read More

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February 2019

Living kidney donation from people at risk of nephrolithiasis, with a focus on the genetic forms.

Urolithiasis 2019 Feb 23;47(1):115-123. Epub 2018 Nov 23.

UOC Nefrologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.

Deciding whether to accept a donor with nephrolithiasis is a multifaceted task because of the challenge of finding enough suitable donors while at the same time ensuring the safety of both donors and recipients. Until not long ago, donors with a history of renal stones or with stones emerging during screening on imaging were not considered ideal, but recent guidelines have adopted less stringent criteria for potential donors at risk of stones. This review goes through the problems that need to be approached to arrive at a wise clinical decision, balancing the safety of donors and recipients with the need to expand the organ pool. Read More

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February 2019

Medullary sponge kidney.

J Med Imaging Radiat Oncol 2018 Oct;62 Suppl 1:93-94

Department of Radiology, Concord Repatriation General Hospital, Concord, New South Wales, Australia.

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October 2018

Page kidney as a complication after a shock wave lithotripsy: a case report.

CEN Case Rep 2018 11 29;7(2):330-331. Epub 2018 Aug 29.

Department of Nephrology, University Hospital Puerta del Mar, Av. Ana de Viya, 21, 11009, Cádiz, Spain.

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November 2018

Association of medullary sponge kidney and hyperparathyroidism with RET G691S/S904S polymorphism: a case report.

J Med Case Rep 2018 Jul 9;12(1):197. Epub 2018 Jul 9.

Department of Endocrinology, The Third Xiangya Hospital, Central South University, Tongzipo Road, Changsha, 410007, Hunan Province, People's Republic of China.

Background: Medullary sponge kidney is a rare renal malformation, which usually manifests as nephrocalcinosis, renal tubular acidosis, and recurrent urinary tract infections. Medullary sponge kidney is often associated with renal developmental anomalies and tumors, and its exact pathogenesis is not yet clearly explained. Given the key role of the interaction of glial cell line-derived neurotrophic factor gene, GDNF, and the "rearranged during transfection" proto-oncogene, RET, in kidney and urinary tract development, variations in these genes are proposed to be candidates for medullary sponge kidney. Read More

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