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BMJ Case Rep 2021 Apr 1;14(4). Epub 2021 Apr 1.

Pediatric Rheumatology, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India

Juvenile dermatomyositis (JDM) is the most common inflammatory myopathy in children and is characterised by the presence of proximal muscle weakness, heliotrope dermatitis, Gottron's papules and occasionally auto antibodies. The disease primarily affects skin and muscles, but can also affect other organs. Renal manifestations though common in autoimmune conditions like lupus are rare in JDM. Read More

Urolithiasis 2021 Mar 15. Epub 2021 Mar 15.

Department of Organ Transplantation, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, China.

A retrospective statistical analysis of primary hyperoxaluria type 1 (PH1) in children from June 2016 to May 2019 was carried out to discover its clinical and molecular biological characteristics. Patients were divided into two groups (infant and noninfant) according to clinic type. There were 13 pediatric patients (male:female = 6:7) with PH1 in the cohort from 11 families (four of which were biological siblings from two families), whose median age of symptom onset was 12 months and median confirmed diagnosis age was 14 months. Read More

Adv Ther 2021 04 11;38(4):1946-1957. Epub 2021 Mar 11.

Aarhus University and Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark.

Introduction: Chronic hypoparathyroidism managed with conventional treatment, comprising oral administration of calcium and active vitamin D, has been associated with renal complications, including nephrolithiasis and nephrocalcinosis. Further larger-scale studies are needed to examine these risks. This study evaluated the risk of nephrolithiasis and nephrocalcinosis in patients with chronic hypoparathyroidism. Read More

Endocrine 2021 Mar 2. Epub 2021 Mar 2.

McMaster University, Hamilton, ON, Canada.

Purpose: To evaluate the epidemiology, presentation and management of hypoparathyroidism in Canada. Hypoparathyroidism is associated with significant morbidity and poor quality of life. We present baseline results from the Canadian National Hypoparathyroidism Registry, a prospective observational study evaluating hypoparathyroidism in Canada. Read More

QJM 2021 Feb 8. Epub 2021 Feb 8.

Primary hyperoxaluria (PH) is a rare metabolic disorder with autosomal recessive inheritance pattern which is due to deficiency of alanine-glyoxylate aminotransferase enzyme. It causes defective glyoxylate metabolism in liver which in turn leads to excessive oxalate production and deposition. Supersaturation of oxalic acid in urine (>45 mg/day) is known as hyperoxaluria which causes nephrolithiasis, cortical nephrocalcinosis and renal insufficiency. Read More

Sci Rep 2021 Jan 19;11(1):1841. Epub 2021 Jan 19.

Department of Surgery, Division of Transplant Surgery, University Medical Center Groningen, University of Groningen, P.O. Box 30 001, 9700 RB, Groningen, The Netherlands.

Nephrocalcinosis is present in up to 43% of kidney allograft biopsies at one-year after transplantation and is associated with inferior graft function and poor graft survival. We studied [F]-sodium fluoride ([F]-NaF) imaging of microcalcifications in donor kidneys (n = 7) and explanted kidney allografts (n = 13). Three µm paraffin-embedded serial sections were used for histological evaluation of calcification (Alizarin Red; Von Kossa staining) and ex-vivo [F]-NaF autoradiography. Read More

Minerva Endocrinol 2020 Dec 3. Epub 2020 Dec 3.

Department of Endocrinology and Metabolism, Ankara Training and Research Hospital, Ankara, Turkey.

Background: Postoperative hypoparathyroidism (PO-HypoPT) is a complication usually seen after thyroid surgery. PO-HypoPT, which lasts longer than 6 months is defined permanently. The aim of this study is to evaluate how close permanent POHypoPT patients can approach target values. Read More

Theranostics 2020 25;10(26):12011-12025. Epub 2020 Oct 25.

Department of Urology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

Calcium oxalate (CaOx) crystal can trigger kidney injury, which contributes to the pathogenesis of nephrocalcinosis. The phenotypes of infiltrating macrophage may impact CaOx-mediated kidney inflammatory injury as well as crystal deposition. How aryl hydrocarbon receptor (AhR) regulates inflammation and macrophage polarization is well understood; however, how it modulates CaOx nephrocalcinosis remains unclear. Read More

Cell Prolif 2020 Oct 18;53(10):e12902. Epub 2020 Sep 18.

Department of Urology, The First Affiliated Hospital of Harbin Medical University, Heilongjiang, China.

Objectives: Calcium oxalate (CaOx) crystals can activate inflammatory cytokines by triggering inflammasomes, which cause damage to the adhered epithelium, a dysfunctional microenvironment and even renal failure. However, a comprehensive and in-depth understanding of the mechanisms underlying the effects of these crystals on damage and cytokine function in renal tubular epithelial cells (TECs) remains limited and to be explored.

Materials And Methods: We detected the pyroptosis of TECs induced after exposure to CaOx crystals and demonstrated the significance of cytokine activation in the subsequent inflammatory processes through a proteomic study. Read More

Eur J Med Genet 2020 Nov 22;63(11):104045. Epub 2020 Aug 22.

Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt. Electronic address:

Enamel renal syndrome (ERS) or so-called amelogenesis imperfecta type IG is a very rare disorder characterized by the triad of amelogenesis imperfecta, gingival enlargement and nephrocalcinosis. It is caused by biallelic mutations in the FAM20A gene. Herein, we report two unrelated patients with ERS. Read More

Case Rep Endocrinol 2020 9;2020:1047327. Epub 2020 Jul 9.

Division of Diabetes, Endocrinology and Metabolism, Vanderbilt University Medical Center, Nashville, TN, USA.

We describe a case of hereditary hypophosphatemic rickets with hypercalciuria (HHRH) in a 32-year-old female with short stature, chronic pathologic genu valgum deformity, and knee pain who was referred to endocrinology clinic after previous inconclusive workups. We present imaging spanning 10 years of untreated disease. Biochemical studies showed hypophosphatemia with undetectable fibroblast growth factor 23 (FGF23. Read More

Theranostics 2020 5;10(16):7319-7334. Epub 2020 Jun 5.

Department of Urology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

Intrarenal calcium oxalate (CaOx) crystals induce renal tubular epithelial cells (TECs) injury and inflammation, which involve Toll-like receptor 4 (TLR4)/interferon regulatory factor 1 (IRF1) signaling. Additionally, infiltrating macrophages (Mϕs) might influence intrarenal CaOx crystals and CaOx-induced renal injury. Although the roles of nuclear factor erythroid 2-related factor 2 (Nrf2) in regulating inflammation and macrophage polarization are well characterized, its potential mechanisms in regulating CaOx nephrocalcinosis remain undefined. Read More

Medicine (Baltimore) 2020 Jun;99(25):e20371

Faculty of Medicine, Cairo University, Cairo, Egypt.

Introduction: Primary hyperoxaluria type 1 (PH1) is a genetic autosomal recessively inherited disorder due to mutation in the alanine-glyoxylate aminotransferase (AGXT) gene. It usually presents in children with nephrolithiasis and/or nephrocalcinosis and progressive renal function impairment and end stage renal disease (ESRD).

Patient Concerns: A 13 years old Saudi boy with history of recurrent urolithiasis since the age of 2 years presented to us with picture of ESRD. Read More

J Endocr Soc 2020 Apr 5;4(4):bvaa014. Epub 2020 Feb 5.

Osteometabolic Disorders Unit, Endocrinology Department, Division of Internal Medicine, Hospital das Clinicas da Universidade de São Paulo HCFMUSP, São Paulo, SP, Brazil.

J Endocr Soc 2020 Apr 13;4(4):bvaa013. Epub 2020 Apr 13.

Nephrology Department, Federal University of Paraná, Curitiba, Paraná, Brazil.

Zhonghua Er Ke Za Zhi 2020 Feb;58(2):129-134

Department of Nephrology, Guangzhou Women and Children's Medical Center, Guangzhou 510120, China.

To investigate the clinical, imaging and molecular characteristics of primary hyperoxaluria type 1 (PH1) in children and to sum up existing evidence for further understanding the phenotype-genotype correlation of infantile PH1. This retrospective analysis was based on the medical records of children with PH1 diagnosed by gene test in the Department of Nephrology, Guangzhou Women and Children's Medical Center from June 2016 to May 2019. Targeted exome sequencing was performed on tubular disease-related genes of the probands and Sanger sequencing was conducted to validate suspected pathogenic variants of family members. Read More

Urology 2019 Dec 1;134:e3-e4. Epub 2019 Oct 1.

Department of Radiodiagnosis, Sree Balaji Medical College and Hospital, Chennai, Tamilnadu, India; IVR Scans, Chennai, Tamil Nadu, India. Electronic address:

Primary Hyperoxaluria is a rare autosomal recessive hereditary disorder due to deficient alanine-glyoxylate aminotransferase enzyme with defective glyoxylate metabolism leading to excessive oxalate production and deposition into the tissues (oxalosis). Deposition of excessive calcium oxalates in nephrons leads to crystallization (nephrocalcinosis) which increases risk for end-stage renal disease. We are presenting a case of primary hyperoxaluria type I confirmed with genetic studies. Read More

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

J Endourol Case Rep 2019 30;5(3):85-87. Epub 2019 Aug 30.

Hospital Alemán de Buenos Aires, Buenos Aires, Argentina.

Urinary diversion with the endoscopic Double-J stent is a frequent procedure; complications can include irritation, suprapubic or flank pain, vesicoureteral reflux, hematuria, or urinary infection. We report a case of hepatic subcapsular hematoma secondary to Double-J stent placement. A 28-year-old woman presented with a history of Sjögren's disease, nephrocalcinosis, and chronic kidney disease (CKD). Read More

J Clin Imaging Sci 2019 30;9:13. Epub 2019 Apr 30.

Department of Radiology, Mayo Clinic Jacksonville, Florida United States.

Nephrocalcinosis consists of deposition of calcium in the renal parenchyma. Renal cortical calcification is a rare entity in comparison to calcium deposits in the medulla and is seen only in a handful of pathologies with corresponding characteristic patterns on imaging. Thin linear calcifications may get deposited in the peripheral renal cortex suggestive of cortical necrosis due to a vascular insult (vasculitis), and rarely due to glomerulonephritis. Read More

Niger J Clin Pract 2019 Aug;22(8):1157-1162

Department of Pediatric Dentistry, Faculty of Dentistry, Suleyman Demirel University, Isparta, Turkey.

Background: The aims of this study are to present sociodemographic and familial characteristics, clinical and systemic findings, dental treatment needs, and concomitant dental anomalies in patients with amelogenesis imperfecta (AI) and to evaluate time-varying conditions in these long-term follow-up patients.

Materials And Methods: Records of patients with AI who were examined in the Department of Pediatric Dentistry between 1999 and 2017 were reviewed. Information about sociodemographic characteristics, history of AI and consanguinity in family, systemic conditions, reasons for referral to the clinic, oral hygiene habits and gingival health, occlusion findings, and performed treatments were gathered. Read More

Cell Death Discov 2019 Aug 5;5(1):124. Epub 2019 Aug 5.

Calcium Signaling Laboratory, Research Service, Veterans Affairs Medical Center, 50 Irving Street NW, Washington, DC, 20422, USA.

Calcium crystal internalization into proximal tubular (PT) cells results in acute kidney injury, nephrocalcinosis, chronic kidney disease (CKD), and kidney-stone formation. Ca supersaturation in PT luminal fluid induces calcium crystal formation, leading to aberrant crystal internalization into PT cells. While such crystal internalization produces reactive oxygen species (ROS), cell membrane damage, and apoptosis; the upstream signaling events involving dysregulation of intracellular Ca homeostasis and ER stress, remain largely unknown. Read More

Pediatr Nephrol 2019 10 23;34(10):1765-1776. Epub 2019 Jul 23.

Neonatal Unit, Department of Women's and Children's Health, Karolinska Institutet, Karolinska University Hospital, 17176, Stockholm, Sweden.

Background: Reduced kidney volume (KV) following prematurity is a proxy for reduced nephron number and is associated with the development of hypertension and end-stage renal disease in adults. We investigated whether extreme prematurity affects KV, function, and blood pressure in school-aged children and if nephrocalcinosis (NC) developed during the neonatal period had additional effects.

Methods: We investigated 60 children at a mean age of 7. Read More

Kidney Blood Press Res 2019 9;44(4):870-877. Epub 2019 Jul 9.

Institute of Genetic Medicine, Newcastle University, Newcastle, United Kingdom.

Background/aims: The CYP24A1 gene encodes the vitamin D 24-hydroxylase enzyme, which hydroxylates active forms of vitamin D into inactive forms. Biallelic mutations in the CYP24A1 gene can lead to elevated levels of active vitamin D metabolites and, consequently, to hypercalcemia, hypercalciuria, nephrocalcinosis, and nephrolithiasis; however, monoallelic mutations have been associated only with milder phenotypes. In the present manuscript, we report the case of a young male patient who presented hypercalcemia and nephrolithiasis, suppressed parathormone, and elevated 1,25 dihydroxy vitamin D levels. Read More

J Community Hosp Intern Med Perspect 2019 19;9(3):271-274. Epub 2019 Jun 19.

Department of Internal Medicine, University of California, Riverside, School of Medicine, Riverside, CA, USA.

Sarcoidosis is a multisystem granulomatous disease of unknown etiology that can present with nonspecific features, often resulting in delayed diagnosis. The diagnosis requires the demonstration of non-caseating granulomas on biopsy. While the prevalence of sarcoidosis in the USA is rare, the disease is rarer yet in Hispanics. Read More

BMC Nephrol 2019 06 18;20(1):224. Epub 2019 Jun 18.

Department of Pathology, The Third Affiliated Hospital of Guangzhou Medical University, 63 Duobao Road, Guangzhou, 510150, People's Republic of China.

Background: Primary hyperoxaluria (PH) is a rare inborn disorder of the metabolism of glyoxylate, which causes the hallmark production oxalate and forms insoluble calcium oxalate crystals that accumulate in the kidney and other organs. Since the manifestation of PH varies from recurrent nephrolithiasis, nephrocalcinosis, and end-stage renal disease with age at onset of symptoms ranging from infancy to the sixth decade, the disease remains undiagnosed until after kidney transplantation in some cases.

Case Presentation: Herein, we report 3 cases of PH diagnosed after kidney transplantation failure, providing the comprehensive clinical course, the ultrasonic image of renal graft and pathologic image of the biopsy, highlighting the relevance of biopsy findings and the results of molecular genetic testing. Read More

J Endocr Soc 2019 May 25;3(5):1053-1061. Epub 2019 Mar 25.

Department of Internal Medicine, Division of Endocrinology, Osteometabolic Disorders Unit, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil.

Context: Nephrocalcinosis (NC) and nephrolithiasis (NL) are described in hypophosphatemic rickets, but data regarding their prevalence rates and the presence of metabolic risk factors in X-linked hypophosphatemic rickets (XLH) are scarce.

Objective: To determine the prevalence rates of NC and NL and their risk factors in patients with XLH with confirmed mutations.

Methods: Renal ultrasonography (US) and CT were performed in 16 children and 23 adults. Read More

J Clin Endocrinol Metab 2019 07;104(7):2735-2747

Children's Hospital Research Institute of Manitoba, Winnipeg, Manitoba, Canada.

Context: Long-term data on enzyme replacement treatment of hypophosphatasia (HPP) are limited.

Objective: To evaluate efficacy and safety of asfotase alfa in patients aged ≤5 years with HPP followed for up to 6 years.

Design: Phase 2 open-label study (July 2010 to September 2016). Read More

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