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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

Front Immunol 2021 24;12:673690. Epub 2021 May 24.

Department of Nephro-urology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.

Background: The global prevalence and recurrence rate of kidney stones is very high. Recent studies of Randall plaques and urinary components , and including gene manipulation, have attempted to reveal the pathogenesis of kidney stones. However, the evidence remains insufficient to facilitate the development of novel curative therapies. 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

Kidney Blood Press Res 2021 Jun 9:1-6. Epub 2021 Jun 9.

U.O.S. Terapia Conservativa della Malattia Renale Cronica, U.O.C. Nefrologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.

Background: Distal renal tubular acidosis (dRTA) is characterized by an impairment of urinary acidification resulting in metabolic acidosis, hypokalemia, and inappropriately elevated urine pH. If not treated, this chronic condition eventually leads to nephrocalcinosis, nephrolithiasis, impaired renal function, and bone demineralization. dRTA is a well-defined entity that can be diagnosed by genetic testing of 5 genes known to be disease-causative. 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

Children (Basel) 2021 May 9;8(5). Epub 2021 May 9.

1st Department of Pediatrics, Aristotle University of Thessaloniki, Hippokratio General Hospital Thessaloniki, 54642 Thessaloniki, Greece.

Subcutaneous fat necrosis is an uncommon benign panniculitis affecting more commonly full-term newborns. It has been associated with birth asphyxia and meconium aspiration, as well as therapeutic hypothermia. Although the prognosis is generally favorable, complications such as hypercalcemia, thrombocytopenia, hypoglycemia and hypertriglyceridemia may complicate its course. Read More

Bone 2021 May 28;151:116025. Epub 2021 May 28.

Royal Manchester Children's Hospital, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.

Introduction: X-linked hypophosphataemia (XLH) is conventionally managed with oral phosphate and active vitamin D analogues.

Objectives: To evaluate long term treatment response by assessing biochemical disease activity [serum alkaline phosphatase (ALP)], radiological rickets severity score (RSS), growth and morbidity in patients with XLH on conventional therapy and assess the correlation between serum ALP and RSS.

Methods: XLH patients from 3 UK tertiary centres with ≥3 radiographs one year apart were included. Read More

Natl Med J India 2020 Jul-Aug;33(4):205-206

Department of Nephrology, Government Rajaji Hospital, Madurai, Tamil Nadu, India.

We report primary hyperoxaluria (PH) type 1 in a young female who presented with a history of right nephrectomy for recurrent renal calculi and pyelonephritis. Genetic study showed it to be a variant of AGXT gene mutation classical of PH type 1. Read More

Indian J Nephrol 2021 Jan-Feb;31(1):1-8. Epub 2021 Jan 27.

Dentistry School, State University of Montes Claros, Unimontes, Minas Gerais State, São Paulo, Brazil.

The enamel renal syndrome (ERS) is a rare autosomal recessive disease that is associated with mutations in the gene. The syndrome is characterized by impaired amelogenesis of the hypoplastic type and nephrocalcinosis, presenting with presence of thin or absence of enamel, late dental eruption, intrapulpal calcifications, bilateral nephrocalcinosis, and normal plasma calcium level. The objective is to characterize ERS by systematically literature reviewing, highlighting the main findings of the syndrome to increase knowledge about this condition in the health professionals. Read More

Hum Mol Genet 2021 May 13. Epub 2021 May 13.

Renal Physiopathology Group, Vall d'Hebron Research Institute (VHIR)-CIBBIM Nanomedicine, Barcelona, Spain.

Dent disease 1 (DD1) is a rare X-linked renal proximal tubulopathy characterized by low molecular weight proteinuria and variable degree of hypercalciuria, nephrocalcinosis and/or nephrolithiasis, progressing to chronic kidney disease. Although mutations in the electrogenic Cl-/H+ antiporter ClC-5, which impair endocytic uptake in proximal tubule cells, cause the disease, there is poor genotype-phenotype correlation and their contribution to proximal tubule dysfunction remains unclear. To further discover the mechanisms linking ClC-5 loss-of-function to proximal tubule dysfunction, we have generated novel DD1 cellular models depleted of ClC-5 and carrying ClC-5 mutants p. Read More

Clin J Am Soc Nephrol 2021 May 13. Epub 2021 May 13.

Center for Rare Renal Diseases and Institut National de la Santé et de la Recherche Médicale Pediatric Clinical Investigation Center, Hospices Civils de Lyon, Lyon, France.

Background And Objectives: In the rare disease primary hyperoxaluria type 1, overproduction of oxalate by the liver causes kidney stones, nephrocalcinosis, kidney failure, and systemic oxalosis. Lumasiran, an RNA interference therapeutic, suppresses glycolate oxidase, reducing hepatic oxalate production. The objective of this first-in-human, randomized, placebo-controlled trial was to evaluate the safety, pharmacokinetic, and pharmacodynamic profiles of lumasiran in healthy participants and patients with primary hyperoxaluria type 1. Read More

Clin Nephrol Case Stud 2021 7;9:54-58. Epub 2021 May 7.

Nephrology Division, NY Harbor VA Medical Center, and NYU School of Medicine, New York, NY, USA.

We recently encountered concern about the safety of bariatric surgery for a patient with cystinuria. Bariatric surgery procedures include those that cause malabsorption, like the Roux-en-Y gastric bypass procedure, and restrictive operations, such as the sleeve gastrectomy. These procedures produce beneficial effects on health and life expectancy, though whether kidney stones are prevented, as well as promoted, is not established. Read More

Curr Osteoporos Rep 2021 May 10. Epub 2021 May 10.

Department of Medicine, Indiana University School of Medicine, 1120 West Michigan Street, CL 365, Indianapolis, IN, 46202-5111, USA.

Purpose Of Review: X-Linked hypophosphatemia (XLH) is the most common genetic cause of rickets. This review describes advances in the management of XLH using burosumab which was FDA approved for treating children with XLH in 2018.

Recent Findings: Elevated FGF23 in XLH leads to systemic hypophosphatemia and several musculoskeletal manifestations, including rachitic bone deformities, impaired growth, dental abscesses, insufficiency fractures, osteoarthritis, and enthesopathy, with lifelong consequences for physical function and quality of life. Read More

Front Immunol 2021 21;12:673423. Epub 2021 Apr 21.

Division of Nephrology, Department of Medicine IV, University Hospital, Ludwig-Maximilians-University Munich, Munich, Germany.

Calcium oxalate (CaOx) crystal formation, aggregation and growth is a common cause of kidney stone disease and nephrocalcinosis-related chronic kidney disease (CKD). Genetically modified mouse strains are frequently used as an experimental tool in this context but observed phenotypes may also relate to the genetic background or intestinal microbiota. We hypothesized that the genetic background or intestinal microbiota of mice determine CaOx crystal deposition and thus the outcome of nephrocalcinosis. Read More

Mol Cytogenet 2021 May 5;14(1):23. Epub 2021 May 5.

Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, 76000, Rouen, France.

Background: Infantile hypercalcemia is an autosomal recessive disorder caused either by mutations in the CYP24A1 gene (20q13.2) or in the SLC34A1 gene (5q35.3). Read More

Clin Case Rep 2021 Apr 18;9(4):2069-2073. Epub 2021 Feb 18.

Department of Pediatrics Hospital Garcia de Orta, EPE Lisbon Portugal.

Subcutaneous fat necrosis of the newborn should be considered in newborns with suggestive skin lesions, even in the absence of perinatal distress. SCFN may cause long-standing complications, like hypertriglyceridemia or hypercalcemia. Hypercalcemia can be refractory to therapy and lead to poor weight gain and nephrocalcinosis, which should be closely monitored. Read More

Bone 2021 Apr 28;149:115977. Epub 2021 Apr 28.

Fungal Pathogenesis Section, Laboratory of Clinical Immunology and Microbiology (LCIM), National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, MD, USA.

Objective: Hypoparathyroidism has heterogeneous genetic and acquired etiologies with a broad spectrum of severity. Herein we describe the clinical outcomes of the largest cohort of hypoparathyroid patients reported to date, who were followed over 27-years.

Design: Pooled analysis of current and past studies describing the differential responses to PTH 1-34 injections vs conventional therapy among the varied hypoPT etiologies. Read More

J Nephrol 2021 Apr 30. Epub 2021 Apr 30.

Fisiopatologia Renal, Centre D'Investigacions en Bioquímica I Biologia Molecular (CIBBIM), Institut de Recerca Vall D'Hebron (VHIR), Barcelona, Spain.

Background: Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare tubulopathy caused by mutations in the CLDN16 or CLDN19 genes. Patients usually develop hypomagnesemia, hypercalciuria, nephrocalcinosis and renal failure early in life. Patients with CLDN19 mutations may also have ocular abnormalities. Read More

Nutrients 2021 Apr 27;13(5). Epub 2021 Apr 27.

Department of Neonatology, Hospital Universitario La Paz, Department of Pediatrics, Universidad Autonoma de Madrid, 28046 Madrid, Spain.

Background: With current Ca and P recommendations for enteral nutrition, preterm infants, especially VLBW, fail to achieve a bone mineral content (BMC) equivalent to term infants. During the first 3 years, most notably in light at term equivalent age (<-2 Z score) VLBW infants' BMC does not catch up. In adults born preterm with VLBW or SGA, lower adult bone mass, lower peak bone mass, and higher frequency of osteopenia/osteoporosis have been found, implying an increased risk for future bone fractures. Read More

J Clin Med 2021 Apr 9;10(8). Epub 2021 Apr 9.

Division of Endocrinology and Metabolism, McMaster University, Hamilton, ON L8S 4L8, Canada.

Primary hyperparathyroidism (PHPT) is the most common cause of hypercalcemia in the outpatient setting. Symptomatic presentation includes non-specific signs and symptoms of hypercalcemia, skeletal fragility, nephrolithiasis and nephrocalcinosis. The majority of individuals present at an asymptomatic stage following routine biochemical screening, without any signs or symptoms of calcium or parathyroid hormone (PTH) excess or target organ damage. Read More

Nephrol Dial Transplant 2021 Apr 29. Epub 2021 Apr 29.

Department of General Pediatrics, University Children's Hospital, Muenster, Germany.

Distal renal tubular acidosis (dRTA) is characterised by an impaired ability of the distal tubule to excrete acid, leading to metabolic acidosis. Associated complications include bone disease, growth failure, urolithiasis and hypokalaemia. Due to its rarity, there is a limited evidence to guide diagnosis and management, however, available data strongly suggest that metabolic control of the acidosis by alkali supplementation can halt or revert almost all complications. Read More

J Clin Endocrinol Metab 2021 Apr 29. Epub 2021 Apr 29.

Division of Nephrology and Endocrinology, The University of Tokyo Hospital, Tokyo, 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.

Design: Observational retrospective study. Read More

Nephrol Ther 2021 Apr;17S:S88-S94

Medical Department III, Endocrinology, Nephrology and Rheumatology, Division of Nephrology, University of Leipzig Medical Center, Leipzig, Germany. Electronic address:

Kidney stone disease comprising nephrolithiasis and nephrocalcinosis is a clinical syndrome of increasing prevalence with remarkable heterogeneity. Stone composition, age of manifestation, rate of recurrence, and impairment of kidney function varies with underlying etiologies. While calcium-based kidney stones account for the vast majority their etiology is still poorly understood. Read More

Nephrol Ther 2021 Apr;17S:S23-S26

Centre de référence des maladies rénales rares, hôpital Femme-Mère-Enfant, 59 boulevard Pinel, 69677 Bron cedex, France; Service de néphrologie rhumatologie dermatologie pédiatriques, hôpital Femme-Mère-Enfant, 59 boulevard Pinel, 69677 Bron cedex, France; Université Claude-Bernard Lyon-1, 8, avenue Rockefeller, 69008 Lyon, France.

Primary hyperoxalurias are rare disease with autosomal recessive inheritance; they often lead to kidney failure and can lead to life-threatening conditions, especially in early onset forms. There are three types, responding to distinct enzyme deficits. Type 1 represents 85% of cases and results from an enzyme deficiency (alanine-glyoxylate aminotransferase) in the peroxisomes of the liver, causing hyperoxaluria leading to urolithiasis with or without nephrocalcinosis. Read More

Front Med (Lausanne) 2021 9;8:592357. Epub 2021 Apr 9.

Division of Pediatric Nephrology and Hypertension, Mayo Clinic, Rochester, MN, United States.

Primary hyperoxaluria type 1 (PH1) is a rare monogenic disorder characterized by excessive hepatic production of oxalate leading to recurrent nephrolithiasis, nephrocalcinosis, and progressive kidney damage, often requiring renal replacement therapy (RRT). Though systemic oxalate deposition is well-known, the natural history of PH1 during RRT has not been systematically described. In this study, we describe the clinical, laboratory, and echocardiographic features of a cohort of PH1 patients on RRT. Read More

Int J Biol Sci 2021 2;17(4):1050-1060. Epub 2021 Mar 2.

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

Renal tubular cell injury induced by calcium oxalate (CaOx) is a critical initial stage of kidney stone formation. Theaflavin (TF) has been known for its strong antioxidative capacity; however, the effect and molecular mechanism of TF against oxidative stress and injury caused by CaOx crystal exposure in kidneys remains unknown. To explore the potential function of TF on renal crystal deposition and its underlying mechanisms, experiments were conducted using a CaOx nephrocalcinosis mouse model established by glyoxylate intraperitoneal injection, and HK-2 cells were subjected to calcium oxalate monohydrate (COM) crystals, with or without the treatment of TF. Read More

Kidney Int 2021 Apr 16. Epub 2021 Apr 16.

Outpatient Clinics, German Hyperoxaluria Center, Cologne/Bonn, Germany. Electronic address:

Outcome data in primary hyperoxaluria type 3 (PH3), described as a less severe form of the PH's with a low risk of chronic kidney disease, are scarce. To investigate this, we retrospectively analyzed the largest PH3 cohort reported so far. Of 95 patients, 74 were followed over a median of six years. Read More

J Pediatr Endocrinol Metab 2021 Jun 12;34(6):791-798. Epub 2021 Apr 12.

Department of Pediatrics, Osaka Hospital, Japan Community Healthcare Organization (JCHO), Osaka, Japan.

Objectives: X-linked hypophosphatemic rickets (XLH) is a congenital fibroblast growth factor (FGF)23-related metabolic bone disease that is treated with active vitamin D and phosphate as conventional therapies. Complications of these therapies include nephrocalcinosis (NC) caused by excessive urine calcium and phosphate concentrations. Recently, an anti-FGF23 antibody, burosumab, was developed and reported to be effective in poorly-controlled or severe XLH patients. Read More

Pediatr Nephrol 2021 Jul 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