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Mol Genet Genomic Med 2022 Jun 3. Epub 2022 Jun 3.

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

Background: Primary hyperoxaluria (PH) is a rare heterogeneous, autosomal recessive disorder of glyoxylate metabolism. It is characterized by excessive hepatic production of oxalate resulting in a wide spectrum of clinical, imaging, and functional presentation. The characteristic features of PH comprise of recurrent urolithiasis, renal stones, and/or nephrocalcinosis. Read More

Mol Genet Genomics 2022 May 25. Epub 2022 May 25.

Department of Nephrology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430000, China.

Objective: Hereditary factors are the main cause of pediatric nephrolithiasis (NL)/nephrocalcinosis (NC). We summarized the genotype-phenotype correlation of hereditary NL/NC in our center, to evaluate the role of genetic testing in early diagnosis.

Methods: The clinical data of 32 NL/NC cases, which were suspected to have an inherited basis, were retrospectively analyzed from May 2017 to August 2020. Read More

J Clin Endocrinol Metab 2022 May 15. Epub 2022 May 15.

University Hospital of Pisa, Endocrine Unit, Pisa, Italy.

Background: Pharmacological therapy may be useful in the treatment of moderate to severe hypercalcemia in patients with infantile hypercalcemia-1 (HCINF1) due to pathogenic variants in the cytochrome P450 24 subfamily A member 1 (CYP24A1). Rifampin is an antituberculosis drug that is a potent inducer of cytochrome P450 3 subfamily A member 4 (CYP3A4), involved in an alternative catabolic pathway of vitamin D. The efficacy of rifampin in improving hypercalcemia was previously reported but many questions remain on the long-term efficacy and safety. Read More

Abdom Radiol (NY) 2022 Jul 14;47(7):2420-2441. Epub 2022 May 14.

Abdominal Imaging & Nuclear Medicine, Mallinckrodt Institute of Radiology, Washington University School of Medicine, 510 S Kingshighway Blvd, St. Louis, MO, 63110, USA.

Background: Renal parenchymal disease is commonly encountered on imaging, and an understanding of the spectrum of pathology is vital to making correct diagnoses and recommendations for management. These conditions can be categorized based on the presence of calcifications, cysts, solid masses, patterns of enhancement, and other characteristic non-mass findings, as well as on their spatial distribution (i.e. Read More

Kidney Dis (Basel) 2022 Mar 24;8(2):148-159. Epub 2022 Jan 24.

Department of Paediatrics, Region Västra Götaland, Sahlgrenska University Hospital, Gothenburg, Sweden.

Aims: This study aimed to investigate associations between renal and extrarenal manifestations of mitochondrial diseases and their natural history as well as predictors of renal disease severity and overall disease outcome. The secondary aim was to generate a protocol of presymptomatic assessment and monitoring of renal function in patients with a defined mitochondrial disease.

Methods: A multicenter, retrospective cohort study was performed by the Mitochondrial Clinical and Research Network (MCRN). Read More

Int J Endocrinol 2022 8;2022:4558236. Epub 2022 Apr 8.

Division of Endocrinology & Diabetes, and Division of Radiology, University of Pernambuco Medical School, Recife, Brazil.

Normocalcemic primary hyperparathyroidism (NPHPT) is characterized by elevated serum levels of parathyroid hormone (PTH) with persistently normal serum calcium concentrations after excluding secondary causes of hyperparathyroidism. Urolithiasis and/or nephrocalcinosis may occur in hypercalcemic PHPT, but little is known about these complications in NPHPT. . Read More

N Engl J Med 2022 Mar 5;386(10):976. Epub 2022 Mar 5.

Zhongda Hospital Southeast University, Nanjing, China

Dtsch Med Wochenschr 2022 Feb 14;147(4):187-199. Epub 2022 Feb 14.

Hypercalcemia as a laboratory result is often diagnosed during evaluation for osteoporosis. Any form of hypercalcemia should be evaluated further. Owing to fluctuating calcium levels, the measurement should be repeated and corrected for elevated albumin levels by calculation or by measuring ionized calcium. Read More

World J Urol 2022 May 12;40(5):1211-1216. Epub 2022 Feb 12.

Department of Pediatric Urology and Children's Urolithiasis Treatment Center of National Health Commission of China, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, 1665 Kongjiang Road, Shanghai, 200092, China.

Purpose: To compare the clinical characteristics of pediatric urolithiasis patients with positive and negative molecular diagnoses.

Methods: The clinical characteristics corresponding to pediatric urolithiasis patients that had undergone exome sequencing at our hospital between January 2016 and May 2021 were collected. Genetic analysis results were used to separate patients into positive and negative molecular diagnosis groups. Read More

Clin Endocrinol (Oxf) 2021 Dec 21. Epub 2021 Dec 21.

Department of Endocrinology, Austin Health, Victoria, Australia.

Objective: To formulate clinical consensus recommendations on the presentation, assessment, and management of primary hyperparathyroidism (PHPT) in adults.

Methods: Representatives from relevant Australian and New Zealand Societies used a systematic approach for adaptation of guidelines (ADAPTE) to derive an evidence-informed position statement addressing nine key questions.

Results: PHPT is a biochemical diagnosis. Read More

Front Pediatr 2021 10;9:752312. Epub 2021 Nov 10.

Schneider Children's Medical Center of Israel, Pediatric Nephrology Institute, Petach Tikva, Israel.

Hypercalcemia with low parathyroid hormone (PTH) level, hypercalciuria, nephrocalcinosis, or nephrolithiasis, was recently reported as caused by mutations in CYP24A1 and SLC34A genes. These encode for vitamin D-24A-hydroxylase and for the renal phosphate transporters NaPiIIa and NaPiIIc, respectively. We aimed to describe the clinical course of these monogenic disorders in patients with and without found mutations during long-term follow-up. Read More

BMC Urol 2021 Nov 29;21(1):164. Epub 2021 Nov 29.

University of Minnesota, 420 Delaware St. S. E., MMC 394, Minneapolis, MN, 55455, USA.

Background: Nephrocalcinosis is often asymptomatic but can manifest with renal colic or hematuria. There is no reported association between nephrocalcinosis and renal vascular malformations, which may also be a source of hematuria. We herein present a case of a patient with hematuria related to nephrocalcinosis and renal papillary varicosities. Read More

Medicine (Baltimore) 2021 Nov;100(46):e27895

Department of Rheumatology, Endocrinology and Nephrology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.

Rationale: Tumor-induced osteomalacia (TIO) is curable by tumor resection, but detection of the tumor can be challenging. Overproduction of fibroblast growth factor 23 (FGF23) by the tumor causes hypophosphatemia and consequently induces inappropriate bone turnover. Conventionally oral phosphate supplementation was the only treatment for TIO, but had risks of hypercalciuria and nephrocalcinosis. Read More

Kidney Int 2021 11;100(5):1145

Nephrology Department, Lille University Hospital Center, Lille University, Lille, France.

Arch Pediatr 2021 Oct 26;28(7):594-598. Epub 2021 Sep 26.

Université de Paris Saclay, AP-HP, Centre de Référence des maladies rares du métabolisme du Calcium et du Phosphate, filière OSCAR, service d'endocrinologie et diabète de l'enfant, hôpital Bicêtre Paris Saclay, Le Kremlin Bicêtre, France.

X-linked hypophosphatemia (XLH) is the most common form of inheritable rickets. The disease is caused principally by PHEX mutations leading to increased concentrations of circulating intact FGF23, hence renal phosphate wasting, hypophosphatemia, and decreased circulating levels of 1,25(OH) vitamin D. The chronic hypophosphatemia leads to rickets and osteomalacia through a combination of mechanisms, including a lack of endochondral ossification and impaired mineralization. Read More

Front Endocrinol (Lausanne) 2021 6;12:688309. Epub 2021 Aug 6.

Laboratory of Pediatric Endocrinology and Bone Densitometry Service, IRCCS San Raffaele Scientific Institute, Milan, Italy.

X-linked hypophosphatemic rickets (XLH) is the commonest inherited form of rickets. It is caused by an impaired regulation of fibroblast growth factor 23 (FGF23) due to a PHEX gene mutation, which leads to reduced tubular reabsorption of phosphate and renal 1α-hydroxylase activity and increased renal 24-hydroxylase activity. Hypophosphatemia associated with renal phosphate wasting, normal serum levels of calcium, parathyroid hormone, and 25-hydroxyvitamin D represents the main biochemical sign in affected patients. Read More

J Endocr Soc 2021 Sep 2;5(9):bvab119. Epub 2021 Jul 2.

Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, MN 55905, USA.

Context: CYP24A1 encodes 24-hydroxylase, which converts 25(OH)D3 and 1,25(OH)D to inactive metabolites. Loss-of-function variants in CYP24A1 are associated with 24-hydroxylase deficiency (24HD), characterized by hypercalcemia, nephrolithiasis, and nephrocalcinosis. We retrospectively reviewed laboratory, imaging, and clinical characteristics of patients with suspected or confirmed 24HD and patients with other vitamin D-mediated hypercalcemia disorders: sarcoidosis, lymphoma, and exogenous vitamin D toxicity (EVT). Read More

Kidney Int Rep 2021 Jul 12;6(7):1895-1903. Epub 2021 May 12.

Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota, USA.

Introduction: Loss-of-function variants in the gene cause a rare hereditary disease characterized by reduced 24-hydroxylase enzyme activity, increased serum 1,25-dihydroxycholecalciferol levels, hypercalcemia, hypercalciuria, and nephrocalcinosis and/or nephrolithiasis. Kidney cysts in patients with CYP24A1 deficiency were first reported in a single case study from our center. However, a possible association between CYP24A1 deficiency and kidney cysts has not been described. Read More

Cureus 2021 Jun 7;13(6):e15494. Epub 2021 Jun 7.

Northwell Hofstra School of Medicine at Staten Island University Hospital, Northwell Health, Staten Island, USA.

Sarcoidosis is a multisystem granulomatous disorder characterized by non-caseating granulomas in multiple organs. It most commonly involves lungs and it is very rare to find isolated cases affecting other organ systems with no associated pulmonary findings. We hereby present a case of a young 30-year-old male who was referred to the hospital by his primary medical doctor due to right eye pain secondary to iritis and acute kidney injury (AKI). Read More

Praxis (Bern 1994) 2021 Jul;110(9):510-511

Ultrasound Learning Center (ULC) der European Federation of Ultrasound in Medicine and Biology (EFSUMB), Klinik Hirslanden, Zürich.

CME Sonography 99/Answers: Kidney Echo Changes Normal kidneys have a smooth contour, kidney length 9-12 cm, volume 90-180 ml/1.73 m2 body surface, parenchyma width 13-18 mm and an echogenicity of the cortex which is hypoechoic compared to the liver and spleen, as well as medullary pyramids, which are again hypoechoic compared to the cortex. Digital ultrasound images enable the echogenicity to be measured between 0 (black) and 255 (white). Read More

J Clin Endocrinol Metab 2021 09;106(10):2915-2937

Division of Endocrinology and Diabetes and Center for Bone Health, Children's Hospital of Philadelphia and Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania 19104, USA.

Context: Idiopathic infantile hypercalcemia (IIH), an uncommon disorder characterized by elevated serum concentrations of 1,25 dihydroxyvitamin D (1,25(OH)2D) and low parathyroid hormone (PTH) levels, may present with mild to severe hypercalcemia during the first months of life. Biallelic variants in the CYP24A1 or SLC34A1 genes are associated with severe IIH. Little is known about milder forms. Read More

Praxis (Bern 1994) 2021 Jun;110(8):461-468

Ultrasound Learning Center (ULC) der European Federation of Ultrasound in Medicine and Biology (EFSUMB), Klinik Hirslanden, Zürich.

CME Sonography 99: Kidney Echo Changes Normal kidneys have a smooth contour, kidney length 9-12 cm, volume 90-180 ml/1.73 m2 body surface, parenchyma width 13-18 mm and an echogenicity of the cortex which is hypoechoic compared to the liver and spleen, as well as medullary pyramids, which are again hypoechoic compared to the cortex. Digital ultrasound images enable the echogenicity to be measured between 0 (black) and 255 (white). Read More

AACE Clin Case Rep 2021 Mar-Apr;7(2):113-116. Epub 2020 Dec 28.

Department of Endocrinology, Diabetes & Metabolism, Walter Reed National Military Medical Center, Bethesda, Maryland.

Objectives: Renal papillary necrosis (RPN) occurring in primary hyperparathyroidism (PHPT) has not been reported. We present a 50-year-old woman who manifested RPN associated with hypercalciuria and normocalcemic PHPT.

Methods: The diagnosis of RPN was based on imaging studies (ultrasound and computed tomography [CT] scan). Read More

J Clin Endocrinol Metab 2021 08;106(9):e3682-e3692

Division of Nephrology and Endocrinology, The University of Tokyo Hospital, Tokyo 113-8655, Japan.

Context: Adults with X-linked hypophosphatemia (XLH) present complications other than osteomalacia.

Objective: To describe the incidence and severity of comorbidities in adults with XLH.

Methods: This observational retrospective study included a total of 25 adults with XLH with thorough investigations, including spinal computed tomography scans, x-rays of hip/knee joints and Achilles tendons, abdominal ultrasounds, and audiograms. Read More

Pediatr Nephrol 2021 07 8;36(7):1931-1935. Epub 2021 Apr 8.

Hospital Universitario Central de Asturias, Avd. Roma SN, 33011, Oviedo, Spain.

Background: Recent reports indicate that chronic reduction of glomerular filtration rate (GFR) is common in patients with distal renal tubular acidosis (DRTA). Factors responsible for decreased GFR need clarification.

Methods: We reviewed records of 25 patients with genetically confirmed DRTA included in the RenalTube database. Read More

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 Oct 15;49(5):425-431. 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 05 2;72(2):553-561. 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