Search Our Scientific Publications & Authors

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

Matern Health Neonatol Perinatol 2018 19;4:23. Epub 2018 Nov 19.

1Division of Pediatrics, University of North Carolina at Chapel Hill, UNC Hospitals 101 Manning Dr. 4th Floor, Chapel Hill, NC CB 7596 USA.

Furosemide is a potent loop diuretic commonly and variably used by neonatologists to improve oxygenation and lung compliance in premature infants. There are several safety concerns with use of furosemide in premature infants, specifically the risk of sensorineural hearing loss (SNHL), and nephrocalcinosis/nephrolithiasis (NC/NL). We conducted a systematic review of all trials and observational studies examining the association between these outcomes with exposure to furosemide in premature infants. Read More

Urolithiasis 2018 Nov 23. 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 Dec;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

Urolithiasis 2018 Nov 20. Epub 2018 Nov 20.

Division of Nephrology and Hypertension, Inselspital, Bern University Hospital, University of Bern, Freiburgstrasse 15, 3010, Bern, Switzerland.

Twin and genealogy studies suggest a strong genetic component of nephrolithiasis. Likewise, urinary traits associated with renal stone formation were found to be highly heritable, even after adjustment for demographic, anthropometric and dietary covariates. Recent high-throughput sequencing projects of phenotypically well-defined cohorts of stone formers and large genome-wide association studies led to the discovery of many new genes associated with kidney stones. Read More

Pediatr Clin North Am 2019 Feb;66(1):179-207

The Research Institute of the McGill University Health Centre, 1001 Boulevard Décarie, Room EM1.2232, Montreal, Quebec H4A3J1, Canada.

Hypophosphatemic rickets, mostly of the X-linked dominant form caused by pathogenic variants of the PHEX gene, poses therapeutic challenges with consequences for growth and bone development and portends a high risk of fractions and poor bone healing, dental problems and nephrolithiasis/nephrocalcinosis. Conventional treatment consists of PO4 supplements and calcitriol requiring monitoring for treatment-emergent adverse effects. FGF23 measurement, where available, has implications for the differential diagnosis of hypophosphatemia syndromes and, potentially, treatment monitoring. Read More

Pediatr Clin North Am 2019 Feb;66(1):169-178

Division of Nephrology, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA 19104, USA. Electronic address:

Dent disease is an X-linked form of chronic kidney disease characterized by hypercalciuria, low molecular weight proteinuria, nephrocalcinosis, and proximal tubular dysfunction. Clinical presentation is highly variable. Male patients may present with early-onset rickets, recurrent nephrolithiasis, or insidiously with asymptomatic proteinuria or chronic kidney disease. Read More

Pediatr Clin North Am 2019 Feb;66(1):135-157

Division of Nephrology, Department of Pediatrics, The Montreal Children's Hospital, McGill University Health Centre, Room B RC.6651, Montreal, Quebec H4A 3J1, Canada; Al Jalila Children's Hospital, Al Jadaf PO Box 7662, Dubai, UAE. Electronic address:

Renal tubular acidosis should be suspected in poorly thriving young children with hyperchloremic and hypokalemic normal anion gap metabolic acidosis, with/without syndromic features. Further workup is needed to determine the type of renal tubular acidosis and the presumed etiopathogenesis, which informs treatment choices and prognosis. The risk of nephrolithiasis and calcinosis is linked to the presence (proximal renal tubular acidosis, negligible stone risk) or absence (distal renal tubular acidosis, high stone risk) of urine citrate excretion. Read More

Tunis Med 2018 Aug - Sep;96(8-09):472-476

Background: Hypoparathyroidism is a rare pediatric endocrine disease, which is caused by low circulating levels of PTH or insensitivity to its action in the target tissues.

Aim: To report the clinical and biochemical characteristics and theoutcome of 8 patients with hypoparathyroidism.

Methods: We analyzed retrospectively the results of clinical, biochemical, radiological findings of patients with hypoparathyroidism diagnosed in pediatric department of Hedi Chaker Hospital during the period 1994-2013. Read More

An Sist Sanit Navar 2018 Nov 14;0(0):63523. Epub 2018 Nov 14.

.

Michaelis-Manz syndrome is an autosomal recessive hereditary tubulopathy associated with mutations in the tight-junction proteins claudin-16 and claudin-19, which are present in the distal convoluted tubule and the loop of Henle in the kidney. Claudin-19 is also expressed in the retinal pigmentary epithelium. The clinical picture causes hypomagnesemia, hyper-calciuria and nephrocalcinosis that can lead to renal failure, which is the condition that marks the prognosis of the disease. Read More

Eur J Med Genet 2018 Nov 10. Epub 2018 Nov 10.

CHU de Caen, Department of Genetics, Molecular Genetics Laboratory and Reference Center for Rare Diseases of Calcium and Phosphorus Metabolism, Caen, F-14000, France; Université Caen Normandie, Medical School, Caen, F14000, France; BioTARGEN, Université Caen Normandie, Caen, F14000, France.

Loss-of-function mutations in CYP24A1 (MIM 126065 20q13.2), the gene encoding the 24-hydroxylase responsible for 25-OH-D and 1,25-(OH)D degradation, are identified in about 20% of patients presenting Idiopathic Infantile Hypercalcemia (IIH) (MIM 143880). Common features of this autosomal recessive condition included hypercalcemia with hypercalciuria, suppressed PTH and a high 25-OH-D:24,25-(OH)D ratio. Read More

Front Physiol 2018 23;9:1490. Epub 2018 Oct 23.

Institute for Neurophysiology, Hannover Medical School, Hanover, Germany.

Dent disease 1 (DD1) is a renal salt-wasting tubulopathy associated with mutations in the Cl/H antiporter ClC-5. The disease typically manifests with proteinuria, hypercalciuria, nephrocalcinosis, and nephrolithiasis but is characterized by large phenotypic variability of no clear origin. Several DD1 cases have been reported lately with additional atypical hypokalemic metabolic alkalosis and hyperaldosteronism, symptoms usually associated with another renal disease termed Bartter syndrome (BS). Read More

Sci Rep 2018 Nov 5;8(1):16319. Epub 2018 Nov 5.

Sorbonne Université, INSERM, UMR_S 1155, AP-HP, Hôpital Tenon, 4 rue de la Chine, 75020, Paris, France.

Most mouse kidney stone models induce nephrocalcinosis rather than urolithiasis. The aim of our study was to find an accelerated experimental model in order to study the early events of stone formation, that is, at the time of crystal binding to intrarenal urothelium. C57B6 mice exposed to vitamin D supplements and water containing hydroxyl-L-proline, ammonium chloride and calcium chloride were studied for 42 days. Read More

J Bone Miner Res 2018 Nov 5. Epub 2018 Nov 5.

Academic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, UK.

Renal calcification (RCALC) resulting in nephrolithiasis and nephrocalcinosis, which affects ∼10% of adults by 70 years of age, involves environmental and genetic etiologies. Thus, nephrolithiasis and nephrocalcinosis occurs as an inherited disorder in ∼65% of patients, and may be associated with endocrine and metabolic disorders including: primary hyperparathyroidism, hypercalciuria, renal tubular acidosis, cystinuria, and hyperoxaluria. Investigations of families with nephrolithiasis and nephrocalcinosis have identified some causative genes, but further progress is limited as large families are unavailable for genetic studies. 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 2018 Nov 1. Epub 2018 Nov 1.

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

Objectives: To assess stone free rates following URS for renal calculi at our institution using low dose renal only CT (LDCT).

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

Saudi J Kidney Dis Transpl 2018 Sep-Oct;29(5):1216-1219

Department of Nephrology, Government Medical College and Super Specialty Hospital, Nagpur, Maharashtra, India.

Primary hyperparathyroidism (PHPT) usually presents with hypercalcemia related symptoms and signs. Kidneys play an important role in calcium homeostasis. PHPT has been reported to be associated with hyperchloremia, defective urinary acidification, and renal tubular acidosis (RTA). Read More

Pediatr Endocrinol Rev 2018 Sep;16(1):194-202

First Department of Paediatrics "Agia Sophia" Children's Hospital, National Kapodistrian University of Athens, Athens, Greece.

Management of hypoparathyroidism (hypoPT), depends on the etiology and the severity of hypocalcemia. Treatment goals include control of hypocalcemic symptoms preserving serum calcium in the low-normal range and phosphate in the high normal range. While correction of serum calcium to low-normal range does not fully correct mineral and bone metabolism it may be associated with increased risk of complications such as nephrolithiasis, nephrocalcinosis and soft tissue calcifications. 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

J Urol 2018 Nov 7;200(5):940. Epub 2018 Aug 7.

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

Front Immunol 2018 25;9:2173. Epub 2018 Sep 25.

Nephrologisches Zentrum, Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Munich, Germany.

The long pentraxin 3 (PTX3) exerts a variety of regulatory functions in acute and chronic tissue inflammation. In particular, PTX3 acts as an opsonin for a variety of pathogens and endogenous particles. We hypothesized that PTX3 would exhibit opsonin-like functions toward calcium oxalate crystals, too, and inhibit crystal growth. Read More

J Child Neurol 2018 Dec 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

Nephrol Dial Transplant 2018 Oct 10. Epub 2018 Oct 10.

Department of Endocrinology, Queen Elizabeth Hospital, Edgbaston, Birmingham, UK.

Background: Alström syndrome (AS) is a rare autosomal recessive ciliopathy with a wide spectrum of clinical features, including cone-rod retinal dystrophy, neuronal deafness, severe insulin resistance and major organ failure. The characteristics of renal disease in the syndrome have not been systematically described. The aim of this study is to define the onset and progression of renal disease in AS. Read More

J Transl Med 2018 Oct 11;16(1):278. Epub 2018 Oct 11.

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

Background: Molecular and cellular pathophysiological events occurring in the majority of rare kidney diseases remain to be elucidated. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive disorder caused by mutations in either CLDN16 or CLDN19 genes. This disease is characterized by massive urinary wasting of magnesium and calcium, osmosis deregulation and polyuria. Read More

Rev Fac Cien Med Univ Nac Cordoba 2018 06 30;75(2):139-142. Epub 2018 Jun 30.

Hospital Privado Universitario de Córdoba.

Primary Sjögren's syndrome is a systemic and chronic autoimmune disease. Renal involvement may occur in up to 30% of patients. The incidence of tubulopathies ranges from 2. 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 Sep 15;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

Arch Pediatr 2018 Oct 21;25(7):442-447. Epub 2018 Sep 21.

Département de génétique, hôpital Necker-Enfants malades, centre de référence maladies osseuses constitutionnelles, 149, rue de Sèvres, 75015 Paris, France.

Hypophosphatasia (HPP) is a rare disease resulting from alterations of the ALPL gene encoding tissue-nonspecific alkaline phosphatase (TNSALP). Perinatal HPP is mainly characterized by bone hypomineralization and severe respiratory insufficiency. We describe a full-term boy diagnosed with perinatal HPP after birth, showing dramatic improvement after treatment with Asfotase Alfa, an enzyme-replacement therapy (ERT) prescribed in HPP cases. Read More

Bone 2018 Sep 21. Epub 2018 Sep 21.

Eunice Kennedy Shriver National Institutes of Child health and Human Development, NIH, Bethesda, MD, United States. Electronic address:

Hypoparathyroidism is a rare disorder of calcium metabolism which is treated with calcium and vitamin D analogs. Although conventional therapy effectively raises serum calcium, it bypasses the potent calcium reabsorption effects of PTH on the kidney which leads to hypercalciuria and an increased risk of nephrocalcinosis and renal insufficiency. Twenty-five years ago, we launched the first systematic investigation into synthetic human PTH 1-34 replacement therapy in both adults and children. Read More

Sci Rep 2018 Sep 21;8(1):14157. Epub 2018 Sep 21.

Department of Urology, School of Medicine, University of California San Francisco, San Francisco, CA, 94143, USA.

Nephrocalcinosis often begins on a calcium phosphate deposit, at the tip of the medullo-papillary complex (MPC) known as Randall's plaque (RP). Contextualizing proximally observed biominerals within the MPC has led us to postulate a mechanobiological switch that can trigger interstitial biomineralization at the MPC tip, remote from the intratubular biominerals. Micro X-ray computed tomography scans of human MPCs correlated with transmission and scanning electron micrographs, and X-ray energy dispersive spectrometry demonstrated novel findings about anatomically-specific biominerals. Read More

Ren Fail 2018 Nov;40(1):520-526

a Department of Nephrology , Children's Hospital of Fudan University , Shanghai , China.

Objective: Primary distal renal tubular acidosis (dRTA) is a rare genetic disease characterized by distal tubular dysfunction leading to metabolic acidosis and alkaline urine. Growth retardation is a major concern in these children. The disease is caused by defects in at least three genes (SLC4A1, ATP6V0A4, and ATP6V1B1) involved in urinary distal acidification. Read More

Horm Res Paediatr 2018 Sep 18:1-7. Epub 2018 Sep 18.

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

Arch Dis Child Educ Pract Ed 2018 Sep 15. Epub 2018 Sep 15.

Department of Woman, Child and of General and Specialized Surgery, Università degli Studi della Campania "Luigi Vanvitelli", Naples, Italy.

: A 12-year-old boy, with intermittent abdominal pain from 3 years of age, presented with increased frequency of right lower quadrant pain (at least three episodes per week over the past six months) and pain during micturition affecting school attendance. His family history included referred urolithiasis. An abdominal ultrasound performed 1 year before our visit showed a small stone of 4 mm in the right renal pelvis for which he did not receive any therapy. 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

Intern Med J 2018 09;48(9):1141-1144

Department of Gastroenterology, Eastern Heath, Melbourne, Victoria, Australia.

It is known that oral sodium phosphate, used as bowel preparation for colonoscopy, can cause acute phosphate nephropathy, a potentially severe and irreversible form of acute kidney injury. Due to these safety concerns, guidelines have advised against the routine use of this agent for a decade. We present a case report and biopsy series that demonstrate that oral sodium phosphate is still being used and that cases of APN are still occurring, in Australia. 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

Microbiol Res 2018 Oct 22;215:65-75. Epub 2018 Jun 22.

Department of Biochemistry, Centre for Excellence in Genomics Science, School of Biological Sciences, Madurai Kamaraj University, Madurai 625 021, India. Electronic address:

Increased intestinal absorption of oxalate causes hyperoxaluria, a major risk factor for kidney stone disease. Intestinal colonization of recombinant probiotic bacteria expressing oxalate-degrading gene (OxdC) is an effective therapeutic option for recurrent calcium oxalate (CaOx) stone disease. Therefore, we aimed to develop food-grade probiotic L. 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

Adv Chronic Kidney Dis 2018 Jul;25(4):366-374

Division of Nephrology and Hypertension, Inselspital, Bern University Hospital, University of Bern; Swiss National Centre of Competence in Research NCCR TransCure, University of Bern, Bern, Switzerland; and the Departments of Internal Medicine and Physiology, and the Charles and Jane Pak Center of Mineral Metabolism and Clinical Research, University of Texas Southwestern Medical Center, Dallas, TX.

Renal tubular acidosis (RTA) is comprised of a diverse group of congenital or acquired diseases with the common denominator of defective renal acid excretion with protean manifestation, but in adults, recurrent kidney stones and nephrocalcinosis are mainly found in presentation. Calcium phosphate (CaP) stones and nephrocalcinosis are frequently encountered in distal hypokalemic RTA type I. Alkaline urinary pH, hypocitraturia, and, less frequently, hypercalciuria are the tripartite lithogenic factors in distal RTA (dRTA) predisposing to CaP stone formation; the latter 2 are also commonly encountered in other causes of urolithiasis. Read More

Adv Chronic Kidney Dis 2018 Jul;25(4):334-350

Division of Nephrology, David Geffen School of Medicine, and Brain Research Institute, UCLA, Los Angeles, CA. Electronic address:

Renal tubular acidosis (RTA) represents a group of diseases characterized by (1) a normal anion gap metabolic acidosis; (2) abnormalities in renal HCO absorption or new renal HCO generation; (3) changes in renal NH, Ca, K, and HO homeostasis; and (4) extrarenal manifestations that provide etiologic diagnostic clues. The focus of this review is to give a general overview of the pathogenesis of the various clinical syndromes causing RTA with a particular emphasis on type I (hypokalemic distal RTA) and type II (proximal) RTA while reviewing their pathogenesis from a physiological "bottom-up" approach. In addition, the factors involved in the generation of metabolic acidosis in both type I and II RTA are reviewed highlighting the importance of altered renal ammonia production/partitioning and new HCO generation. Read More

Adv Chronic Kidney Dis 2018 Jul;25(4):303-320

Pathophysiology Division, Pathology Department, School of Medicine, National University of Cuyo, Mendoza, Argentina; and Division of Nephrology, Department of Medicine, Northwestern University, Feinberg School of Medicine, Chicago, IL. Electronic address:

Distal renal tubular acidosis (DRTA) is defined as hyperchloremic, non-anion gap metabolic acidosis with impaired urinary acid excretion in the presence of a normal or moderately reduced glomerular filtration rate. Failure in urinary acid excretion results from reduced H secretion by intercalated cells in the distal nephron. This results in decreased excretion of NH and other acids collectively referred as titratable acids while urine pH is typically above 5. Read More

Biomed Khim 2018 Aug;64(4):315-325

Institute of Molecular Medicine of the Sechenov First Moscow State Medical University (Sechenov University), Moscow, Russia; Research Centre for Medical Genetics, Moscow, Russia.

Urolithiasis is a common urological problem. In most cases, this multifactorial pathology develops due to the combination of inherited low-penetrance gene variants and environment factors such as urinary tract infections and unbalanced diet. However, some cases are monogenic. 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

Pflugers Arch 2018 Aug 14. Epub 2018 Aug 14.

Department of Molecular Nutrition, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH; OMIM: 241530) is a rare autosomal recessive disorder with an estimated prevalence of 1:250,000 that was originally described by Tieder et al. Individuals with HHRH carry compound-heterozygous or homozygous (comp/hom) loss-of-function mutations in the sodium-phosphate co-transporter NPT2c. These mutations result in the development of urinary phosphate (Pi) wasting and hypophosphatemic rickets, bowing, and short stature, as well as appropriately elevated 1,25(OH)D levels, which sets this fibroblast growth factor 23 (FGF23)-independent disorder apart from the more common X-linked hypophosphatemia. Read More

Turk J Pediatr 2018 ;60(1):76-80

Departments of Pediatric Nephrology, İzmir Tepecik Training and Research Hospital, , Izmir.

Alparslan C, Öncel EP, Akbay S, Alaygut D, Mutlubaş F, Tatlı M, Konrad M, Yavaşcan Ö, Kasap-Demir B. A novel homozygous W99G mutation in CLDN-16 gene causing familial hypomagnesemic hypercalciuric nephrocalcinosis in Turkish siblings. Turk J Pediatr 2018; 60: 76-80. Read More

Clin Kidney J 2018 Aug 16;11(4):581-585. Epub 2018 Mar 16.

Nephrology Division, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.

Kidney transplant patients (KTPs), and particularly those with advanced chronic kidney rejection, may be affected by opportunistic infections, metabolic alterations and vascular and oncologic diseases that promote clinical conditions that require a variety of treatments, the combinations of which may predispose them to hyponatremia. Salt and water imbalance can induce abnormalities in volemia and/or serum sodium depending on the nature of this alteration (increase or decrease), its absolute magnitude (mild or severe) and its relative magnitude (body sodium:water ratio). Hyponatremia appears when the body sodium:water ratio is reduced due to an increase in body water or a reduction in body sodium. Read More

Clin Kidney J 2018 Aug 16;11(4):459-461. Epub 2017 Oct 16.

Department of Internal Medicine, Viborg Regional Hospital, Viborg, Denmark.

Dent's disease is characterized by manifestations of proximal tubule dysfunction including hypercalciuria, kidney stones, proteinuria, rickets and progressively declining kidney function. The diagnosis is based on the presence of low-molecular-weight proteinuria, hypercalciuria and at least one of the following: nephrocalcinosis, kidney stones, haematuria, hypophosphataemia or renal insufficiency. Dent's disease is a hereditary condition that is caused by variants in the gene or the gene and affects only males. Read More

Ophthalmic Genet 2018 Oct 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

J Pediatr 2018 Aug;199