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Int J Nephrol Renovasc Dis 2022 17;15:197-206. Epub 2022 Jun 17.

U.O.S. Terapia Conservativa della Malattia Renale Cronica, U.O.C. Nefrologia, Dipartimento di Scienze Mediche e Chirurgiche, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italia.

Primary hyperoxaluria (PH) is a rare genetic disease caused by excessive hepatic production and elevated urinary excretion of oxalate that leads to recurrent nephrolithiasis, nephrocalcinosis and, eventually, kidney failure. As glomerular filtration rate declines, oxalate accumulates leading to systemic oxalosis, a debilitating condition with high morbidity and mortality. Although PH is usually diagnosed during infancy, it can present at any age with different phenotypes, ranging from mild symptoms to extremely debilitating manifestations. Read More

Iran J Kidney Dis 2022 May;16(3):209-213

Department of Nephrology, Hasheminejad Kidney Center, Iran University of Medical Sciences, Tehran, Iran.

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive disorder that is characterized by renal magnesium wasting, hypercalciuria and eventually kidney failure which mostly affects children and young aged adults. Mutation of genes of claudin-16 and claudin-19 are involved in the pathogenesis of this disorder, which leads to renal magnesium and calcium wasting. A 35-year-old man with end-stage kidney disease (ESKD) was referred to our clinic due to bilateral nephrocalcinosis, detected by ultrasonographic study, for further evaluation. Read More

Iran J Kidney Dis 2022 May;16(3):162-170

1Intrdisciplinary Laboratory of Medical Investigation, Faculty of Medicine, Federal University of Minas Gerais (UFMG), Brazil.

Introduction: Bartter syndrome (BS) is a salt losing tubulopathy due to impairment of the transport mechanisms at the thick ascending limb of the Henle's loop. The aim of this study was to report the clinical course of patients with BS.

Methods: Patients with BS were followed from 1996 to 2020 and enrolled to a systematic protocol to confirm primary BS by evaluating the metabolic derangements, nephrolithiasis and nephrocalcinosis. Read More

Clin Kidney J 2022 May 17;15(Suppl 1):i29-i32. Epub 2022 May 17.

University of Chicago, Nephrology Section, South Maryland, Chicago, IL, USA.

In adults, primary hyperoxaluria (PH) does not always present as obviously as in children, leading to delayed or even missed diagnosis. When diagnosed in adulthood, PH usually progresses at a slower rate and the focus is on the prevention of recurrent kidney stones as much as it is on the preservation of renal function. The most tragic presentation is when the diagnosis is made after primary non-function of a renal graft for treating previously unknown renal disease. Read More

Trials 2022 Jun 16;23(1):499. Epub 2022 Jun 16.

Centre de Référence des Maladies Rénales Rares, filières maladies rares ORKID and ERK-Net, Service de Néphrologie, Rhumatologie et Dermatologie Pédiatriques, Hôpital Femme Mère Enfant, Boulevard Pinel, 69677, Bron, Cedex, France.

Background: Hypercalciuria is one of the most frequent metabolic disorders associated with nephrolithiasis and/or nephrocalcinosis possibly leading to chronic kidney disease (CKD) and bone complications in adults. Orphan diseases with different underlying primary pathophysiology share inappropriately increased 1,25(OH)D levels and hypercalciuria, e.g. Read More

Pediatr Nephrol 2022 Jun 13. Epub 2022 Jun 13.

Department of Pediatric Nephrology, Dokuz Eylül University Medical Faculty, Balçova, Izmir, 35340, Turkey.

J Bone Miner Res 2022 Jun 11. Epub 2022 Jun 11.

Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) represents an FGF23-independent disease caused by biallelic variants in the solute carrier family 34-member 3 (SLC34A3) gene. HHRH is characterized by chronic hypophosphatemia and an increased risk for nephrocalcinosis and rickets/osteomalacia, muscular weakness, and secondary limb deformity. Biochemical changes, but no relevant skeletal changes, have been reported for heterozygous SLC34A3 carriers. Read More

Urolithiasis 2022 Jun 9. Epub 2022 Jun 9.

Department of Pathology, Sindh Institute of Urology and Transplantation (SIUT), Karachi, Pakistan.

Autosomal recessive disorders are prevalent in Pakistan, a developing South Asian country where consanguineous marriages are common. This study seeks to determine the prevalence of monogenic causes in children presenting with nephrocalcinosis and nephrolithiasis at a dialysis and transplant center in Karachi, Pakistan. A retrospective analysis was conducted in children aged 1-18 years presenting with nephrocalcinosis, between 2010 and 2019. Read More

Bone Rep 2022 Jun 18;16:101591. Epub 2022 May 18.

Departments of Pediatrics, Schulich School of Medicine and Dentistry, University of Western Ontario, London, Canada.

Background: Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH) ( gene, OMIM 241530) is an autosomal recessive disorder that results in a loss of function of the sodium-phosphate NPT2c channel at the proximal tubule. Phosphate supplementation rarely improves serum phosphate, hypercalciuria, nephrocalcinosis, 1,25(OH) vitamin D (1,25(OH)D) levels or short stature.

Methods: We describe Na MRI and the successful use of recombinant human growth hormone (rhGH) and Fluconazole to improve growth (possibly confounded by puberty) and hypercalciuria in a now 12-year-old male with HHRH (novel homozygous mutation, c. Read More

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

Healthcare (Basel) 2022 May 2;10(5). Epub 2022 May 2.

Kidney Stone Clinic, Nephrology Department, Hôpital Brugmann, 1020 Brussels, Belgium.

Kidney stone disease represents a rare cause of chronic kidney disease (2-3%) but has severe clinical consequences. Type 1 renal tubular acidosis is a strong lithogenic condition mainly related to primary Sjögren syndrome. This study aimed to illustrate an unusual presentation of Sjögren syndrome to improve the knowledge about rare kidney stone diseases, and to provide clues for the diagnostic approach in this specific condition. 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

Ann Endocrinol (Paris) 2022 May 19. Epub 2022 May 19.

Service de Néphrologie et d'Exploration Fonctionnelle Rénale, Hospices Civils de Lyon, Hôpital Edouard Herriot, Lyon, France; Université Lyon 1, Lyon, France; Centre de Référence des Maladies Rares du Calcium et du Phosphore, Centre de Référence des Maladies Rénales Rares, Filières de Santé Maladies Rares OSCAR, ORKID et ERKNet, France.

Parathyroid hormone (PTH) is a hypercalcemic hormone acting on kidneys, bone and intestine. PTH promotes calcium release from the bone, renal calcium reabsorption and phosphate excretion, and conversion of 25-hydroxyvitamin D to 1,25-dihydroxyvitamin D-3. Hyperparathyroidism consists in PTH elevation, which may be adapted (secondary hyperparathyroidism) or non-adapted to calcemia levels (primary hyperparathyroidism, familial hypercalcemia/hypocalciuria, tertiary hyperparathyroidism). Read More

Clin Kidney J 2022 May 17;15(Suppl 1):i23-i28. Epub 2022 May 17.

Department of Pediatric Nephrology, Emma Children's Hospital, Amsterdam UMC, Amsterdam, The Netherlands.

The clinical presentation of primary hyperoxaluria in children ranges from mildly symptomatic nephrocalcinosis to very early onset end-stage kidney failure with systemic oxalosis, a devastating complication. We review the various manifestations of pediatric hyperoxaluria, treatment options for children with preserved kidney function and appropriate dialysis regimens. Liver or combined liver/kidney transplantation is currently the only definitive treatment for primary hyperoxaluria type 1, but novel RNA interference treatments offer hope for the future. Read More

Clin Kidney J 2022 May 17;15(Suppl 1):i1-i3. Epub 2022 May 17.

Department of Urology, University of Alabama at Birmingham, Birmingham, AL, USA.

Oxalate crystals in the kidney were first described in 1925. Since then, many major milestones have been reached in the understanding of genetic primary hyperoxaluria(s). Primary hyperoxaluria type 1 (PH1) is an autosomal recessive disease due to a mutation in the gene, which encodes the hepatic peroxisomal enzyme alanine-glyoxylate aminotransferase (AGT), inducing excess oxalate production and further kidney stones, nephrocalcinosis and chronic kidney disease (CKD). Read More

Pediatr Nephrol 2022 May 18. Epub 2022 May 18.

Department of Renal Medicine, Sydney Children's Hospital Network, Sydney, NSW, Australia.

Kidney tubules are responsible for the preservation of fluid, electrolyte and acid-base homeostasis via passive and active mechanisms. These physiological processes can be disrupted by inherited or acquired aetiologies. The net result is a tubulopathy. Read More

Front Pediatr 2022 28;10:845424. Epub 2022 Apr 28.

Neonatal Intensive Care Unit, ASST Grande Ospedale Metropolitano Niguarda, Milan, Italy.

Subcutaneous fat necrosis of the newborn (SCFN) is a panniculitis that develops in fatty areas after fetal or perinatal distress. Prognosis is generally good with complete regression, but it can be complicated by metabolic abnormalities like hypoglycemia, hypertriglyceridemia, thrombocytopenia, and also potentially life-threatening hypercalcemia. Treatments have included hydration, furosemide and corticosteroids. Read More

Intern Med 2022 May 14. Epub 2022 May 14.

Department of Nephrology and Rheumatology, Chubu Rosai Hospital, Japan.

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

Nephrol Dial Transplant 2022 May 13. Epub 2022 May 13.

Division of Nephrology, Dialysis and Renal Transplantation, ASST-GOM Niguarda, Milan Italy.

Background: Microscopic nephrocalcinosis secondary to intratubular CaP precipitation is thought to accelerate progression to end-stage renal failure in chronic kidney diseases. In P-loaded uninephrectomized rats intratubular CaP crystal formation and progressive tubular damage occurred when end-proximal tubule P concentration (ePTpc) increased above a threshold level.

Methods: We have calculated ePTpc in humans by urine P and creatinine concentration, with the end-proximal tubule fluid volume calculated either as Li clearance (ePTpc-Li) or as a fixed 0. Read More

BMC Nephrol 2022 May 12;23(1):182. Epub 2022 May 12.

Nephrology Department, Heraklion University Hospital, Voutes, 71500, Heraklion, Crete, Greece.

Background: Dent disease is an X-linked disorder characterized by low molecular weight proteinuria (LMWP), hypercalciuria, nephrolithiasis and chronic kidney disease (CKD). It is caused by mutations in the chloride voltage-gated channel 5 (CLCN5) gene (Dent disease-1), or in the OCRL gene (Dent disease-2). It is associated with chronic metabolic acidosis; however metabolic alkalosis has rarely been reported. Read More

Pediatr Nephrol 2022 May 11. Epub 2022 May 11.

Department of Medicine, Pediatrics, Hospital Universitario Central de Asturias, University of Oviedo, Oviedo, Asturias, Spain.

The clinical manifestations of primary distal renal tubular acidosis usually begin in childhood, but the disease is caused by a genetic defect that persists throughout life. This review focuses on the complications of distal tubular acidosis that occur or remain long-term such as nephrocalcinosis and urolithiasis, growth impairment, bone mineralization, severe hypokalemia, kidney cysts, and progressive kidney failure, as well as other persistent manifestations that occur independent of acidosis but are associated with some inherited forms of the disease. The pathogenic factors responsible for kidney failure are discussed in particular because it is a complication to which different publications have recently drawn attention and which affects a high percentage of adults with primary distal renal tubular acidosis. Read More

Saudi J Kidney Dis Transpl 2021 Sep-Oct;32(5):1470-1474

Department of Nephrology, Hippokration General Hospital, Athens, Greece.

There is a well-established association between primary Sjögren's syndrome and distal renal tubular acidosis (dRTA). dRTA is a relatively infrequent manifestation of primary Sjögren's syndrome which can present with life-threatening electrolyte abnormalities while, in some patients, it could be the first manifestation of the syndrome. We report the case of a 35-year-old woman who presented with unexplained episodes of generalized weakness, severe hypokalemia, nephrocalcinosis, and normal anion gap metabolic acidosis. Read More

Cureus 2022 Apr 7;14(4):e23910. Epub 2022 Apr 7.

Pediatrics, St. John's Medical College Hospital, Bengaluru, IND.

This case report describes a boy with a rare genetic disease that primarily affects the kidneys and has implications on growth and development. Dent disease type 1 is an X-linked tubulopathy mainly caused by inactivating mutations in the chloride voltage-gated channel 5 (CLCN5) gene. It is a rare but important diagnosis for children with variable phenotypic presentations that can include low molecular weight proteinuria (LMWP), nephrocalcinosis, bony deformities and possible progression to early-onset renal failure. 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

Cureus 2022 Mar 29;14(3):e23616. Epub 2022 Mar 29.

Medical Genetics and Onco-genetics Laboratory, Central Laboratory of Medical Analysis, Hospital University Hassan II, Fez, MAR.

Nephrolithiasis (NL) and urolithiasis (UL) are usual reasons for hospitalization and presentation in pediatric outpatient departments and their incidence continues to rise worldwide. In Morocco, a previous epidemiological study done in the Fez region between January 2003 and November 2013 reported a prevalence of 0.83% of childhood UL. Read More

Front Med (Lausanne) 2022 7;9:862514. Epub 2022 Apr 7.

Department of Nephrology, Shengjing Hospital of China Medical University, Shenyang, China.

Background: Bartter syndrome (BS) type II is a rare autosomal recessive renal tubular disorder caused by mutations in the gene, which encodes the apical renal outer medullary potassium (ROMK) channel in the thick ascending limb (TAL) of Henle's loop. BS type II is typically considered as a disorder of infancy and seldom seen in adults.

Case Presentation: A 34-year-old woman was admitted with generalized body numbness and hand convulsions, without growth retardation. Read More

J Oral Maxillofac Pathol 2022 Feb 28;26(Suppl 1):S129-S132. Epub 2022 Feb 28.

Department of Oral Pathology and Microbiology, Rishiraj College of Dental Sciences and Research Centre, Bhopal, Madhya Pradesh, India.

Amelogenesis imperfecta (AI) is a developmental, inherited disorder affecting dental enamel. Preterm and low birth weight children are prone to many serious medical problems during the neonatal period, which may affect the development of oral tissues. We report a case of AI presenting with renal disease and thereby highlighting the importance of early diagnosis of this possible association to prevent renal failure and death of the patient. Read More

J Assoc Physicians India 2022 Apr;70(4):11-12

Sawai Man Singh Medical College and Hospital, Jaipur, Rajasthan.

Sjogren syndrome is an autoimmune disease characterised by lymphocytic infiltration and inflammation of the exocrine glands resulting in decreased secretion of involved glands which manifests mostly as dry eye and dry mouth. The prevalence of the disease is reported to be about 10.3 per 10,000 population. Read More