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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

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

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

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 2019 Nov 28;62(11):103561. 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

Turk J Pediatr 2018 ;60(2):210-215

Departments of Pediatric Nephrology, Kayseri Training and Research Hospital, Kayseri, Turkey.

Baştuğ F, Nalçacıoğlu H, Baş VN, Tekatlı-Çelik B, Çetinkaya H, Yel S. Acute renal failure due to severe hypercalcemia and nephrocalcinosis treated with two doses of pamidronate in an infant with Williams-Beuren syndrome. Turk J Pediatr 2018; 60: 210-215. Read More

J Child Neurol 2018 12 12;33(14):925-929. Epub 2018 Oct 12.

2 Department of Neurology, Division of Child Neurology, Indiana University School of Medicine, Indianapolis, IN, USA.

Mutations in the STE20-related kinase adaptor α ( STRADA) gene have been reported to cause an autosomal recessive neurodevelopmental disorder characterized by infantile-onset epilepsy, developmental delay, and craniofacial dysmorphisms. To date, there have been 17 reported individuals diagnosed with STRADA mutations, 16 of which are from a single Old Order Mennonite cohort and share a deletion of exons 9-13. The remaining individual is of consanguineous Indian descent and has a homozygous single-base pair duplication. 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

Horm Res Paediatr 2019 18;91(4):278-284. Epub 2018 Sep 18.

Clinic of Pediatric Endocrinology, Dr. Sami Ulus Obstetrics and Gynecology and Pediatrics Training and Research Hospital, Ankara, Turkey.

Background: Under physiological conditions, proximal tubular phosphate reabsorption via NaPi-IIa (and NaPi-IIc) ensures the maintenance of phosphate homeostasis. Impairment of NaPi-IIa, encoded by SLC34A1, is associated with various overlapping clinical syndromes, including hypophosphatemic nephrolithiasis with osteoporosis, renal Fanconi's syndrome with chronic kidney disease, and idiopathic infantile hypercalcemia and nephrocalcinosis.

Methods: A patient was referred to our hospital due to hyponatremia, hyperkalemia, and hypophosphatemia, as well as persistent hypercalcemia after fluid therapy and sodium replacement. 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

Saudi J Kidney Dis Transpl 2018 Jul-Aug;29(4):1000-1004

Department of Pediatrics, Index Medical College, Hospital and Research Center, Indore, Madhya Pradesh, India.

We report a rare case of two young male siblings with sickle cell anemia who presented with bilateral lower limb deformities, failure to thrive, polyuria, and polydipsia. On investigations, they were found to have normal anion gap metabolic acidosis, hypokalemia, and nephrocalcinosis were seen on ultrasonography of the kidneys. These reports were suggestive of distal renal tubular acidosis (dRTA). Read More

J Dev Behav Pediatr 2018 09;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

Pediatr Nephrol 2018 10 29;33(10):1723-1729. Epub 2018 Jun 29.

Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (MARHEA), Filière ORKiD, Paris, France.

Background: Prenatal diagnosis of hyperechogenic kidneys is associated with a wide range of etiologies and prognoses. The recent advances in fetal ultrasound associated with the development of next-generation sequencing for molecular analysis have enlarged the spectrum of etiologies, making antenatal diagnosis a very challenging discipline. Of the various known causes of hyperechogenic fetal kidneys, calcium and phosphate metabolism disorders represent a rare cause. Read More

J Bone Miner Res 2018 11 30;33(11):2071-2080. Epub 2018 Jul 30.

Pediatrics/Hematology, CHOC Children's Hospital - UC Irvine, Orange, CA, USA.

Pediatric granulomatous arthritis (PGA) refers to two formerly separate entities: autosomal dominant Blau syndrome (BS) and its sporadic phenocopy early-onset sarcoidosis (EOS). In 2001 BS and in 2005 EOS became explained by heterozygous mutations within the gene that encodes nucleotide-binding oligomerization domain-containing protein 2 (NOD2), also called caspase recruitment domain-containing protein 15 (CARD15). NOD2 is a microbe sensor in leukocyte cytosol that activates and regulates inflammation. Read More

J Bone Miner Res 2018 10 20;33(10):1870-1880. Epub 2018 Jul 20.

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

Nephropathic cystinosis is a rare lysosomal storage disorder. Patients present in the first year of life with renal Fanconi syndrome that evolves to progressive chronic kidney disease (CKD). Despite the multiple risk factors for bone disease, the frequency and severity of skeletal disorders in nephropathic cystinosis have not been described. Read More

J Bone Miner Res 2018 10 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

Am J Kidney Dis 2018 04;71(4):A12-A14

Division of Nephrology and Hypertension, Henry Ford Hospital, Detroit, MI.

Pediatr Nephrol 2018 10 19;33(10):1697-1699. Epub 2018 Feb 19.

Division of Nephrology, Department of Pediatrics, The Children's Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA, 19014-4339, USA.

Pediatr Nephrol 2018 10 19;33(10):1695. Epub 2018 Feb 19.

Division of Nephrology, Department of Pediatrics, The Children's Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA, 19104-4339, USA.

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