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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

Best Pract Res Clin Endocrinol Metab 2018 12 12;32(6):791-803. Epub 2018 Sep 12.

Columbia University Medical College of Physicians & Surgeons, New York, USA. Electronic address:

Traditionally, classical complications of primary hyperparathyroidism are mainly represented by skeletal, kidney and gastrointestinal involvement. The old picture of osteitis fibrosa cystica is no longer commonly seen, at least in the western world. However, new imagining techniques have highlighted deterioration of skeletal tissue in patients with primary hyperparathyroidism not captured by traditional DXA measurement. Read More

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

Medicine (Baltimore) 2018 Nov;97(48):e13210

Rheumatology Division, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, Brazil.

Rationale: Hypophosphatasia is an inborn error of metabolism that can appear any time in life, mainly with bone manifestations due to low alkaline phosphatase activity. Asfotase alfa is a specific enzyme reposition treatment that has shown promising results in children; however, there are few reports about the outcomes in adult patients.

Patient Concerns: A 36-year-old male presented with an early history of craniosynostosis, short stature, and multiple fractures since the age of 13 years-which needed numerous surgical corrections. Read More

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

J Pediatr 2018 12;203:391-399.e1

Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD.

Objective: To determine whether multiple daily injections of parathyroid hormone (PTH) 1-34 are safe and effective as long-term therapy for children with hypoparathyroidism.

Study Design: Linear growth, bone accrual, renal function, and mineral homeostasis were studied in a long-term observational study of PTH 1-34 injection therapy in 14 children.

Methods: Subjects were 14 children with hypoparathyroidism attributable to autoimmune polyglandular syndrome type 1 (N = 5, ages 7-12 years) or calcium receptor mutation (N = 9, ages 7-16 years). Read More

Eur J Med Genet 2018 Oct 28. Epub 2018 Oct 28.

Department of Dentistry, Federal University of Jequitinhonha and Mucuri Valleys, UFVJM, Brazil.

Enamel renal syndrome (ERS) is a rare autosomal recessive disorder not fully characterized. Here we investigated ERS characteristics in 11 patients from 5 Brazilian families through clinical examination, imaging, renal ultrasonography, laboratory tests and DNA sequencing. The patients' age ranged from 6 to 25 years-old, and the presence of hypoplastic amelogenesis imperfecta, microdontia, intra-pulpal calcification, impacted posterior teeth with hyperplastic pericoronal follicles, gingival fibromatosis, ectopic calcifications on gingival and pericoronal tissues, and nephrocalcinosis were common findings to all patients. Read More

Urology 2019 Feb 2;124:52-56. Epub 2018 Nov 2.

Indiana University School of Medicine, Department of Urology, Indianapolis, IN. Electronic address:

Objective: To assess stone-free rates following ureteroscopy (URS) for renal calculi at our institution using low-dose renal only computed tomography (CT).

Methods: A retrospective review of patients undergoing flexible URS for renal stones only with subsequent CT scan within 3 months. Meticulous basketing of all stone fragments was performed whenever possible. Read More

Rev Assoc Med Bras (1992) 2018 Jul;64(7):575-576

Department of Neurological Surgery, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.

Hypercalcemia associated with silicone-induced granuloma is a rare disease. Diagnosis can be tricky as it is established after ruling out other hypercalcemia-causing entities. In addition, management is customized depending on the patient's wishes and possible solutions. Read More

BMJ Case Rep 2018 Sep 27;2018. Epub 2018 Sep 27.

Neonatology, Fernandez Hospital, Hyderabad, India.

We present an 11-month-old girl child with complaints of constipation, cough, fever, vomiting and growth retardation. On examination, she had facial dysmorphism, hypertension and murmur. The genetic evaluation showed 7q microdeletion specific to Williams syndrome. Read More

Clin Imaging 2018 Nov - Dec;52:370-376. Epub 2018 Sep 15.

Imaging department, Schneider Children's Medical Center of Israel, 14 Kaplan street, Petach Tikva, Israel.

Primary hyperoxaluria (PH) is a group of autosomal recessive diseases that affect the metabolism of glyoxalate and oxalate. As a result of the enzymatic deficiency, there is overproduction and urinary excretion of oxalate with progressive renal damage and subsequent deposition of oxalate salts in various tissues. The definitive treatment in cases of end-stage kidney disease is a combined liver and kidney transplant. Read More

G Ital Nefrol 2018 Sep;35(5)

Unità Operativa Neurologia, Ospedale Vito Fazzi, Lecce.

Encrusted pyelitis is a chronic urinary tract infection associated with mucosal encrustation induced by urea splitting bacteria. More than 40 bacteria have been implicated but the most frequent is Corynebacterium group D2. Predisposing factors are debilitating chronic diseases and preexisting urological procedures. Read More

J Nephrol 2018 Dec 6;31(6):863-879. Epub 2018 Sep 6.

Sant'Anna School of Advanced Studies, Department of Internal Medicine, University of Pisa, Pisa, Italy.

Chronic kidney disease (CKD) includes all clinical features and complications during the progression of various kidney conditions towards end-stage renal disease (ESRD). These conditions include immune and inflammatory disease such as: primary and hepatitis C virus (HCV)-related glomerulonephritis; infectious disease such as pyelonephritis with or without reflux and tuberculosis; vascular disease such as chronic ischemic nephropathy; hereditary and congenital disease such as polycystic disease and congenital cystic dysplasia; metabolic disease including diabetes and hyperuricemia; and systemic disease (collagen disease, vasculitis, myeloma). During the progression of CKD, ultrasound imaging and color Doppler imaging (US-CDI) can differentiate the etiology of the renal damage in only 50-70% of cases. Read More

Pediatr Nephrol 2018 Dec 3;33(12):2281-2288. Epub 2018 Sep 3.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, 20850, USA.

Background: The DICER1 syndrome is a tumor-predisposition disorder caused by germline pathogenic variation in DICER1 and is associated with cystic nephroma and other renal neoplasms. Dicer1 mouse and rare human DICER1 syndrome case reports describe structural kidney and collecting system anomalies. We investigated renal function and the frequency of structural abnormalities of the kidney and collecting system in individuals with germline loss-of-function variants in DICER1. Read More

J Dev Behav Pediatr 2018 Sep;39(7):591-593

Division of Developmental Behavioral Pediatrics, University of Michigan Medical School, Ann Arbor, MI.

Case: Andrew is a 17-year-old male with trisomy 21, commonly known as Down syndrome, and accompanying severe intellectual disability who presents to your primary care office with his father for the first time to establish care and assistance with transition. Andrew has a history of a complete atrioventricular canal that was repaired as an infant and poorly controlled infantile spasms. Currently, he struggles with constipation, esophageal strictures, medullary nephrocalcinosis, urinary retention, sleep dysregulation, G-tube dependency, and hip dysplasia. Read More

Ophthalmic Genet 2018 10 1;39(5):577-583. Epub 2018 Aug 1.

c Department of Genetics , King Faisal Specialist Hospital and Research Center , Riyadh , Saudi Arabia.

Purpose: The purpose of this study is to uncover the genetic cause for non-syndromic macular "coloboma" (pseudocoloboma) in three brothers from a consanguineous family.

Methods: Homozygosity mapping for the three affected brothers and whole-exome sequencing in one affected brother, followed by confirmatory Sanger sequencing and segregation analysis of the candidate gene for all immediate family members; molecular modeling of the candidate mutation; and review of clinical, imaging, and laboratory findings.

Results: Three otherwise-healthy brothers (age 10, 10, and 6 years) had macular pseudocoloboma. Read More

BMC Nephrol 2018 07 13;19(1):181. Epub 2018 Jul 13.

Department of Nephrology, The Affiliated Hospital of Qingdao University, 16 Jiangsu Road, Qingdao, 266003, China.

Background: Sixty mutations of claudin 16 coding gene have been reported in familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) patients. Recent investigations revealed that a highly conserved glycine-leucine-tryptophan (G-L-W) motif in the first extracellular segment (ESC1) of claudin 16 might be essential for stabilization of the appropriately folded ECS1 structure and conservation of normal claudin 16 function. However, neither missense nor nonsense mutation has ever been described in this motif. Read More

CEN Case Rep 2018 11 29;7(2):313-315. Epub 2018 Jun 29.

Nephrology Department, CH Haguenau, 67500, Haguenau, France.

30% of the patients suffering from hyperoxaluria type 1 are diagnosed only when they already had reached end-stage renal disease. We report the case of a 57-year-old woman with history of chronic kidney failure presenting with paraplegia due to spinal cord compression by thoracic mass-like lesions. Bone biopsy specimen obtained by decompressive laminectomy revealed calcium oxalate deposits. Read More

J Bone Miner Res 2018 Oct 22;33(10):1741-1747. Epub 2018 Jun 22.

Skeletal Distorders and Mineral Homeostasis, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland, USA.

Subcutaneous human parathyroid hormone (hPTH) therapy can effectively manage hypocalcemia in hypoparathyroidism, with varying effects on hypercalciuria. However, little is known about its ability to decrease the renal comorbidities of hypoparathyroidism: nephrocalcinosis (NC), nephrolithiasis (NL), and renal insufficiency. Urinary citrate (Ucit) promotes the solubility of urinary calcium (UCa); hypocitraturia is a risk factor for NC/NL. Read More

Pan Afr Med J 2018 30;29:86. Epub 2018 Jan 30.

Laboratoire de Biochimie, CHU Ibn Rochd, Université Hassan II, Casablanca, Maroc.

We here report the case of a female infant with perinatal asphyxia requiring resuscitation. She was referred with sclerema neonatorum which had been observed by parents on her tenth day of life. The lesions appeared as hard erythematous nodular plaques, suggesting neonatal cytosteatonecrosis in the gluteal region. Read More

Pol Merkur Lekarski 2018 Apr;44(262):208-210

Medical University of Lublin, Poland: Department of Pediatric Nephrology.

Primary hyperparathyroidism is one of the most common endocrine diseases, however, it is rare in children. In most cases, it is caused by adenoma of these organs. Its most common complications include urolithiasis, nephrocalcinosis and osteoporosis. Read More

J Pediatr 2018 08 23;199:263-266. Epub 2018 Apr 23.

Section of Pediatric Endocrinology and Diabetology, Riley Hospital for Children, Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN; Division of Endocrinology & Metabolism, Department of Medicine, Indiana University School of Medicine, Indianapolis, IN.

The prevalence of nephrocalcinosis in persons with pseudohypoparathyroidism has not been systematically examined. We conducted a retrospective study of renal imaging and biochemical results in 19 patients with pseudohypoparathyroidism with 49 imaging assessments. No cases of nephrocalcinosis were identified. Read More

Indian J Radiol Imaging 2018 Jan-Mar;28(1):107-110

Department of Radiology and Imaging Sciences, Children's Healthcare of Atlanta and Emory University, 1405 Clifton Road NE, Atlanta, Georgia 30322.

Objective: To describe the radiographic appearance of subclinical calcified brown fat necrosis and the associated clinical and laboratory findings.

Materials And Methods: Picture Archiving and Communications Sytem (PACS) was searched using keywords "soft tissue calcification" and "chest." The clinical record was searched for prior cardiac surgery, bypass, Extracorporeal Membrane Oxygentation (ECMO) and prostaglandin use. Read More

Front Immunol 2018 29;9:619. Epub 2018 Mar 29.

Division of Nephrology, Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Munich, Germany.

Crystallopathies are a heterogeneous group of diseases caused by intrinsic or environmental microparticles or crystals, promoting tissue inflammation and scarring. Certain proteins interfere with crystal formation and growth, e.g. Read More

Arch Pediatr 2017 May;24(5S2):5S74-5S79

Centre de référence pour les maladies rares du métabolisme du calcium et du phosphore, filière OSCAR; unité d'endocrinologie, maladies osseuses, génétique et gynécologie, hôpital des enfants, CHU de Toulouse, TSA 70034, 31059 Toulouse Cedex 09, France; Centre de physiopathologie de Toulouse-Purpan, CPTP, INSERM UMR 1043, université de Toulouse-Paul-Sabatier, 31059 Toulouse, France. Electronic address:

Radiography and imaging are necessary for the diagnosis of hypophosphatasia (HPP) at all stages of life, from the antenatal period to the complications of adulthood, and in the forms of variable severity. The consequences of alkaline phosphatase activity deficiency, namely defective mineralization and bone fragility, may be detected by radiological tools and share features that distinguish them from other diseases responsible for mineralization defects. Radiography and imaging are also fundamental for the screening and diagnosis of the complications of HPP, some of which are related to the episodes of hypercalcemia and hyperphosphatemia (nephrocalcinosis). Read More

J Obstet Gynaecol 2018 Apr 23;38(3):429-431. Epub 2018 Jan 23.

a Department of Nephrology , Madras Medical Mission , Chennai , India.

Ophthalmic Genet 2018 04 15;39(2):275-277. Epub 2017 Dec 15.

c Department of Pediatrics , University Children's Hospital, University Medical Center Hamburg-Eppendorf , Hamburg , Germany.

Background: Primary hyperoxaluria type 1 (PH1) is a rare congenital metabolic disorder of the glyoxylate pathway, which manifests with nephrocalcinosis, urolithiasis, and end-stage renal failure (ESRD) as well as deposition of oxalate crystals within ocular tissues. This report demonstrates classical ocular features of PH1 of the posterior pole and furthermore highlights the ocular genotype-phenotype variability among siblings with identical compound heterozygous alanine-glyoxylate aminotransferase (AGXT) mutations.

Materials And Methods: Two siblings, an 8-year-old boy and an 18-year-old girl, with genetically confirmed AGXT mutation (c. Read More

Kidney Int 2018 03 12;93(3):656-669. Epub 2017 Dec 12.

Medizinische Klinik und Poliklinik IV, Klinikum der Universität, Ludwig-Maximilians-Universität München, Munich, Germany. Electronic address:

Primary/secondary hyperoxalurias involve nephrocalcinosis-related chronic kidney disease (CKD) leading to end-stage kidney disease. Mechanistically, intrarenal calcium oxalate crystal deposition is thought to elicit inflammation, tubular injury and atrophy, involving the NLRP3 inflammasome. Here, we found that mice deficient in NLRP3 and ASC adaptor protein failed to develop nephrocalcinosis, compromising conclusions on nephrocalcinosis-related CKD. Read More

Int J Prosthodont 2018 January/February;31(1):31–34. Epub 2017 Nov 22.

Dental rehabilitation of acute cases of enamel renal syndrome is challenging due to the absence of clinical reports. In the present case history report, examination of an 18-year-old patient revealed a complete lack of permanent teeth, as well as irregular and swollen bone and gingival morphology. Radiographs showed multiple impacted teeth in both arches. Read More

Pediatr Dev Pathol 2018 Sep-Oct;21(5):502-506. Epub 2017 Nov 6.

1 Department of Pathology, Women and Infants Hospital, Providence, Rhode Island.

Therapeutic hypothermia (head or whole-body cooling) improves survival and neurodevelopmental outcome in term newborns with moderate-to-severe encephalopathy. Hypothermia treatment is well tolerated; the most common side effect is thrombocytopenia. In about 1% of infants, focal subcutaneous fat necrosis has been reported. Read More

Morphologie 2018 Mar 22;102(336):48-53. Epub 2018 Feb 22.

Department of rheumatology, Strasbourg university hospital, 1, avenue Molière, 67200 Strasbourg, France. Electronic address:

Primary hyperoxaluria is a rare genetic disorder characterized by oxalate overproduction, leading to kidney failure due to nephrocalcinosis, and is eventually responsible for systemic oxalosis. Bone impairment, secondary to oxalate deposits, is one of the many complications that may occur. Skeletal involvement can be difficult to diagnose because of lack of clinical symptoms and therefore needs to be confirmed by invasive testing, such as transiliac bone biopsy. Read More

Bone Rep 2017 Dec 20;7:90-97. Epub 2017 Sep 20.

Section on Skeletal Disorders and Mineral Homeostasis, National Institutes of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.

Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome clinically characterized by bone pain, fractures and muscle weakness. It is caused by tumoral overproduction of fibroblast growth factor 23 (FGF23) that acts primarily at the proximal renal tubule, decreasing phosphate reabsorption and 1α-hydroxylation of 25 hydroxyvitamin D, thus producing hypophosphatemia and osteomalacia. Lesions are typically small, benign mesenchymal tumors that may be found in bone or soft tissue, anywhere in the body. Read More

Nucl Med Commun 2017 Dec;38(12):1060-1066

aDepartment of Nuclear Medicine and Biomedical Research Institute bDepartment of Internal Medicine, Pusan National University Hospital, Busan cDepartment of Nuclear Medicine and Research Institute for Convergence of Biomedical Science and Technology, Yangsan Pusan National University Hospital, Yangsan, Republic of Korea.

Objective: We aimed to determine the factors contributing toward diffusely increased renal uptake on bone scintigraphy using technetium-99m (Tc-99m) diphosphono-propanedicarboxylic acid (DPD) in patients with end-stage renal disease.

Patients And Methods: One-hundred and forty-three bone scintigraphies, performed between June 2007 and July 2013, in 135 patients with chronic kidney disease were analyzed retrospectively, including 22 bone scintigraphies (15 patients; eight women; seven men) with glomerular filtration rates less than 15 ml/min/1.73 m. Read More

Kidney Int 2018 01 12;93(1):204-213. Epub 2017 Oct 12.

Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA. Electronic address:

The incidence of nephrolithiasis continues to rise. Previously, we showed that a monogenic cause could be detected in 11.4% of individuals with adult-onset nephrolithiasis or nephrocalcinosis and in 16. Read More

J Pediatr Urol 2017 Aug 10;13(4):355.e1-355.e6. Epub 2017 Jul 10.

Division of Urology, Department of Surgery, Children's Hospital of Eastern Ontario, University of Ottawa, Canada. Electronic address:

Introduction: Renal stone disease diagnosed in the first year of life is relatively uncommon. While risk factors such as low birth weight, furosemide exposure, and metabolic disorders are well established, there exists little information regarding resolution rates and need for surgical intervention. Our study objective was to evaluate urolithiasis and renal calcification resolution rates, time to resolution, and need for surgical intervention in children diagnosed in their first year of life. Read More

Front Physiol 2017 24;8:326. Epub 2017 May 24.

Laboratory Orofacial Pathologies, Imaging and Biotherapies, Dental School, Paris Descartes University, Sorbonne Paris CitéParis, France.

Claudins are a family of proteins that forms paracellular barriers and pores determining tight junctions (TJ) permeability. Claudin-16 and -19 are pore forming TJ proteins allowing calcium and magnesium reabsorption in the thick ascending limb of Henle's loop (TAL). Loss-of-function mutations in the encoding genes, initially identified to cause Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis (FHHNC), were recently shown to be also involved in (AI). Read More

J Hum Genet 2017 Jul 16;62(7):679-686. Epub 2017 Mar 16.

Dental Department, Lampang Hospital, Lampang, Thailand.

Enamel-renal-gingival syndrome (ERGS; OMIM #204690), a rare autosomal recessive disorder caused by mutations in FAM20A, is characterized by nephrocalcinosis, nephrolithiasis, amelogenesis imperfecta, hypoplastic type, gingival fibromatosis and other dental abnormalities, including hypodontia and unerupted teeth with large dental follicles. We report three patients and their families with findings suggestive of ERGS. Mutation analysis of FAM20A was performed in all patients and their family members. Read More

Nephrol Ther 2017 May 1;13(3):176-182. Epub 2017 Feb 1.

Department of general surgery, Ain Shams University, El-Khalifa El-Maamoun, Al Waili, 11588 Cairo, Egypt.

Background And Aim: Primary hyperoxalurias are rare inborn errors of metabolism resulting in increased endogenous production of oxalate that leads to excessive urinary oxalate excretion. Diagnosis of primary hyperoxaluria type 1 (PH1) is a challenging issue and depends on diverse diagnostic tools including biochemical analysis of urine, stone analysis, renal biopsy, genetic studies and in some cases liver biopsy for enzyme assay. We characterized the clinical presentation as well as renal and extrarenal phenotypes in PH1 patients. Read More

Oral Surg Oral Med Oral Pathol Oral Radiol 2017 Feb 13;123(2):229-234.e2. Epub 2016 Oct 13.

Stomatology Clinic, Dental School, State University of Montes Claros, Montes Claros, Minas Gerais, Brazil.

Enamel-renal syndrome (OMIM #204690) is an uncommon disorder characterized by amelogenesis imperfecta and nephrocalcinosis and is caused by mutations in FAM20 A. We report 2 patients with enamel-renal syndrome who exhibited the typical features of this syndrome and a homozygous nonsense mutation in the FAM20 A gene (c.406 C>T), genetically confirming the diagnosis. Read More

Arch Endocrinol Metab 2016 Nov-Dec;60(6):532-536. Epub 2016 Nov 24.

Serviço de Endocrinologia e Metabologia do Paraná (SEMPR), Universidade Federal do Paraná (UFPR), Curitiba, PR, Brasil.

Objectives: To identify a clinical profile and laboratory findings of a cohort of hypoparathyroidism patients and determine the prevalence and predictors for renal abnormalities.

Materials And Methods: Data from medical records of five different visits were obtained, focusing on therapeutic doses of calcium and vitamin D, on laboratory tests and renal ultrasonography (USG).

Results: Fifty-five patients were identified, 42 females and 13 males; mean age of 44. Read More

Indian J Ophthalmol 2016 Sep;64(9):683-685

Department of Nursing, Catholic University of Murcia, Murcia, Spain.

Macular coloboma is a congenital defect of the retina and choroid in the macular region. It may appear due to an intrauterine inflammation or a developmental abnormality. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a result of malformation of the renal tubule. Read More

Pediatr Radiol 2017 Jan 14;47(1):96-103. Epub 2016 Nov 14.

Division of Pediatric Radiology, Department of Radiology, Children's Hospital of Montefiore Medical Center, 111 E. 210th Street, Bronx, NY, 10467, USA.

Primary hyperoxaluria is a rare autosomal recessive inborn error of metabolism with three known subtypes. In primary hyperoxaluria type 1, the most common of the subtypes, a deficiency in the hepatic enzymes responsible for the metabolism of glycoxylate to glycine, leads to excessive levels of glyoxylate, which is converted to oxalate. The resultant elevation in serum and urinary oxalate that characterizes primary hyperoxaluria leads to calcium oxalate crystal deposition in multiple organ systems (oxalosis). Read More

Urolithiasis 2017 Jun 17;45(3):291-294. Epub 2016 Sep 17.

Division of Nephrology, Institute of Internal Medicine and Geriatrics, Fondazione Policlinico Universitario A. Gemelli, Catholic University of the Sacred Heart, 00168, Rome, Italy.

Mutations of the CYP24A1 gene, encoding for the enzyme 25(OH)D-24-hydroxylase, can cause hypercalcemia, hypercalciuria, nephrolithiasis and nephrocalcinosis. We report the case of a 22-year-old male patient with recurrent nephrolithiasis, nephrocalcinosis, hypercalcemia with low parathyroid hormone levels, hypercalciuria and low bone mass. Gene sequencing showed that the patient had compound heterozygous mutations including a novel genotype of the CYP24A1 gene. Read More

Eur J Endocrinol 2017 Jan 6;176(1):R39-R52. Epub 2016 Sep 6.

Laboratory of Experimental EndocrinologyIRCCS Istituto Ortopedico Galeazzi, Milan, Italy

Primary hyperparathyroidism (PHPT) is the third most common endocrine disease. Kidney is a target of both chronic elevated PTH and calcium in PHPT. The classic PHPT complications of symptomatic kidney stones and nephrocalcinosis have become rare and the PHPT current presentation is asymptomatic with uncertain and long-lasting progression. Read More

J Med Genet 2017 01 16;54(1):26-37. Epub 2016 Aug 16.

Faculty of Health Sciences, Division of Dentistry, Oral Care Center for Inherited Diseases, University Hospital of Brasilia, University of Brasilia, Brasilia, Brazil.

Background: Amelogenesis imperfecta (AI) is a group of genetic diseases characterised by tooth enamel defects. AI was recently described in patients with familial hypercalciuria and hypomagnesaemia with nephrocalcinosis (FHHNC) caused by CLDN16 mutations. In the kidney, claudin-16 interacts with claudin-19 to control the paracellular passage of calcium and magnesium. Read More

Pediatr Rev 2016 Aug;37(8):351-3

Dayton Children's Hospital, Dayton, OH.

Ann Surg Oncol 2016 12 27;23(Suppl 5):701-707. Epub 2016 Jul 27.

Endocrine Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.

Background: Persistent/recurrent primary hyperparathyroidism (pHPT) occurs frequently in multiple endocrine neoplasia type 1 (MEN1). We assessed the usefulness of intraoperative PTH (IOPTH) and preoperative localizing studies based on the outcome of patients with MEN1-associated pHPT undergoing reoperative surgery.

Methods: A retrospective analysis identified MEN1 patients with persistent/recurrent pHPT. Read More