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Nephrocalcinosis

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https://www.readbyqxmd.com/read/29905968/skeletal-consequences-of-nephropathic-cystinosis
#1
Pablo Florenzano, Carlos Ferreira, Galina Nesterova, Mary Scott Ramnitz, Sri Harsha Tella, Luis Fernandez de Castro, Sydney M Brown, Adom Whitaker, Renata C Pereira, Dorothy Bulas, Rachel I Gafni, Isidro B Salusky, William A Gahl, Michael T Collins
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. We performed systematic bone and mineral evaluations of subjects with cystinosis seen at the NIH (N = 30), including history and physical examination, serum and urine biochemistries, DXA, vertebral fracture assessment, skeletal radiographs, and renal ultrasound...
June 15, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29878514/hypocitraturia-is-an-untoward-side-effect-of-synthetic-human-parathyroid-hormone-hpth-1-34-therapy-in-hypoparathyroidism-that-may-increase-renal-morbidity
#2
Rachel I Gafni, Craig B Langman, Lori C Guthrie, Beth A Brillante, Robert James, Nancy A Yovetich, Alison M Boyce, Michael T Collins
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. Twenty-four hour UCa, Ucit, and UCa/Ucit were determined in 31 hypoparathyroid patients receiving hPTH 1-34 therapy for up to 5 years...
June 7, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29875967/-neonatal-cytosteatonecrosis-complicated-by-major-hypercalcemia
#3
Assiya El Kettani, Nabiha Kamal
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. Patient's evolution was marked by progressive hypercalcemia reaching a peak of 128 mg/L (80-110 mg/L) for which re-hospitalization was required 1 month after birth. Renal ultrasound showed medullary nephrocalcinosis...
2018: Pan African Medical Journal
https://www.readbyqxmd.com/read/29867772/pamidronate-rescue-therapy-for-hypercalcemia-in-a-child-with-williams-syndrome
#4
Sami A Sanjad, Bilal Aoun, Halim Yammine, Amina Bassyouni, Pascale E Karam
A 15-month-old male infant diagnosed with Williams Syndrome (WS) was admitted with severe hypercalcemia and nephrocalcinosis. Intravenous hydration and furosemide failed to yield an appreciable and sustainable fall in serum calcium, while the injection of pamidronate achieved a significant decrease in serum calcium in a short period of time. This bisphosphonate could be considered as a second-line treatment for refractory hypercalcemia in WS.
2018: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29854977/nephrolithiasis-and-nephrocalcinosis-from-topiramate-therapy-in-children-with-epilepsy
#5
Sarah M Barnett, Anthony H Jackson, Beth A Rosen, Jane L Garb, Gregory L Braden
Introduction: Adults treated with topiramate may develop nephrolithiasis, but its frequency in children on topiramate is unknown. Topiramate inhibits renal carbonic anhydrase, which can lead to renal tubular acidosis and hypercalciuria. We studied 40 consecutive children who initiated topiramate therapy for seizures between January 1997 and February 2003, followed for a mean of 36 months. Methods: Serum electrolytes, urinary calcium/creatinine ratios, and renal ultrasonography were performed before topiramate and every 6 months thereafter...
May 2018: KI Reports
https://www.readbyqxmd.com/read/29806749/the-effects-of-diuretics-on-mineral-and-bone-metabolism
#6
Uri S Alon
The effects of diuretics on water and electrolyte metabolism are well-established, but less known to the clinician are their effects on bone and mineral metabolism, and in particular on that of calcium homeostasis. In general, and clinically most relevant, diuretics acting at the thick ascending limb of the loop of Henle cause loss of calcium into the urine, thus making them a useful tool in treating hypercalcemia. However the hypercalciuria caused by loop diuretics may lead to the development of urolithiasis and nephrocalcinosis, as well as secondary hyperparathyroidism and bone disease...
March 2018: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/29791050/a-novel-clcn5-pathogenic-mutation-supports-dent-disease-with-normal-endosomal-acidification
#7
Yohan Bignon, Alexi Alekov, Nadia Frachon, Olivier Lahuna, Carine Jean-Baptiste Doh-Egueli, Georges Deschênes, Rosa Vargas-Poussou, Stéphane Lourdel
Dent disease in an X-linked recessive renal tubular disorder characterized by low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis and progressive renal failure. Inactivating mutations of CLCN5, the gene encoding the 2Cl- /H+ exchanger ClC-5 have been reported in patients with Dent disease 1. In vivo studies in mice harboring an artificial mutation in the "gating glutamate" of ClC-5 (c.632A > C, p.Glu211Ala) and mathematical modeling suggest that endosomal chloride concentration could be an important parameter in endocytosis, rather than acidification as earlier hypothesized...
May 23, 2018: Human Mutation
https://www.readbyqxmd.com/read/29788189/progression-of-mineral-ion-abnormalities-in-patients-with-jansen-s-metaphyseal-chondrodysplasia
#8
Hiroshi Saito, Hiroshi Noda, Philippe Gatault, Detlef Böckenhauer, Kah Yin Loke, Olaf Hiort, Caroline Silve, Erin Sharwood, Regina Matsunaga Martin, Michael J Dillon, David Gillis, Mark Harris, Sudhaker D Rao, Richard M Pauli, Thomas J Gardella, Harald Jüppner
Context: Five different activating PTH/PTHrP receptor (PTHR1) mutations have been reported as causes of Jansen metaphyseal chondrodysplasia (JMC), a rare disorder characterized by severe growth plate abnormalities and PTH-independent hypercalcemia. Objectives: Assess the natural history of clinical and laboratory findings in twenty-four JMC patients and characterize the disease-causing mutant receptors in vitro. Patients and Methods: The H223R mutation occurred in 18 patients...
May 16, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29786188/-a-young-girl-with-recurrent-calculosis-and-hypercalcemia
#9
Federica Di Maio, Matteo Vittori, PierFrancesco Bassi, Pierluigi Fulignati, Silvia D'Alonzo, Pietro Manuel Ferraro
Mutations of the CYP24A1 gene are associated with alterations in the activity of the enzyme 25-OH-D-24-hydroxylase, resulting in dysfunction of the metabolism of vitamin D. This enzymatic deficiency may cause hypercalcemia, low parathyroid hormone levels, hypercalciuria, nephrolithiasis and nephrocalcinosis. The clinical case of a young woman with recurrent renal lithiasis, hypercalcemia and hypercalciuria is described. These features are linked to deficiency of the enzyme 25-OH-D-24-hydroxylase, therefore to a biallelic mutation of the CYP24A1 gene...
May 2018: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/29782992/single-ultra-high-dose-cholecalciferol-to-prevent-vitamin-d-deficiency-in-pediatric-hematopoietic-stem-cell-transplantation
#10
Gregory Wallace, Sonata Jodele, Kasiani C Myers, Christopher E Dandoy, Javier El-Bietar, Adam Nelson, Ashley Teusink-Cross, Pooja Khandelwal, Cynthia Taggart, Catherine M Gordon, Stella M Davies, Jonathan C Howell
Vitamin D deficiency is prevalent among childhood hematopoietic stem cell transplantation (HSCT) recipients and associated with inferior survival at 100 days after transplantation. Achieving and maintaining therapeutic vitamin D levels in HSCT recipients is extremely challenging in the first 3 to 6 months after transplantation due to poor compliance in the setting of mucositis and the concomitant use of critical transplantation drugs that interfere with vitamin D absorption. We sought to evaluate the safety and efficacy of a single, ultra-high-dose of vitamin D given before childhood HSCT to maintain levels in a therapeutic range during the peritransplantation period...
May 18, 2018: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/29782346/claudins-and-nephrolithiasis
#11
Allein Plain, R Todd Alexander
PURPOSE OF REVIEW: The greatest risk factor for kidney stone formation is increased urinary calcium excretion. Most filtered calcium is reabsorbed from the proximal tubule and the thick ascending limb (TAL) of Henle's loop via a paracellular pathway. Claudins are tight junction proteins that confer the permeability properties of an epithelium. We review the contribution of renal claudins to nephron calcium permeability and how perturbations in these pathways cause alterations in tubular calcium transport, hypercalciuria, nephrocalcinosis, or nephrolithiasis...
July 2018: Current Opinion in Nephrology and Hypertension
https://www.readbyqxmd.com/read/29775451/-recurrent-urolithiasis-as-a-symptom-of-primary-hyperparathyroidism-in-a-16-year-old-boy
#12
Monika Wojciechowska, Beata Bieniaś, Aleksandra Sobieszczańska-Droździel, Anna Wieczorkiewicz-Płaza, Iwona Beń-Skowronek, Przemysław Sikora
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. CASE REPORT: A 16-year-old patient was admitted to our Clinic because of his first-ever renal colic. The ultrasound examination revealed rightsided hydronephrosis caused by the presence of 9 mm stone in the upper part of the right ureter. In addition, the presence of 8 mm stone in the middle calyx of the left kidney was found...
April 23, 2018: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29756720/a-novel-mutation-of-dent-s-disease-in-an-11-year-old-male-with-nephrolithiasis-and-nephrocalcinosis
#13
Ozlem Sancakli, Bahar Kulu, Onur Sakallioglu
Dent's disease is a rare X-linked recessive tubulopathy characterized by low molecular weight (LMW) proteinuria, hypercalciuria, nephrolcalcinosis or nephrolithiasis, proximal tubular dysfunction and renal failure in adulthood. Females are carriers and usually mildly affected. Progression to endstage renal failure are at the 3rd-5th decades of life in 30-80% of affected males. In the absence of therapy targeting for the molecular defect, the current care of patients with Dent's disease is supportive, focusing on the prevention of nephrolithiasis and nephrocalcinosis...
June 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29726829/childhood-sarcoidosis-presenting-as-recurrent-facial-palsy
#14
Gouri Rao Passi, Kriti Arora, Narendra Gokhale
BACKGROUND: Recurrent facial palsy in a patient merits investigation for underlying etiology. CASE CHARACTERISTICS: 8-year-old boy with erythematous itchy skin lesion and recurrent facial palsy. OBSERVATION: He had a past history of aseptic meningitis and nephrocalcinosis. Raised angiotensin converting enzyme levels, interstitial lung disease on CT chest, and non caseating granulomas on skin biopsy clinched the diagnosis of sarcoidosis. MESSAGE: Multisystem involvement and recurrent lower motor facial nerve palsy is a clinical clue for sarcoidosis...
April 15, 2018: Indian Pediatrics
https://www.readbyqxmd.com/read/29725771/distal-renal-tubular-acidosis-clinical-manifestations-in-patients-with-different-underlying-gene-mutations
#15
Marta Alonso-Varela, Helena Gil-Peña, Eliecer Coto, Juan Gómez, Julián Rodríguez, Enrique Rodríguez-Rubio, Fernando Santos
BACKGROUND: To evaluate whether there are differences in the phenotype of primary distal renal tubular acidosis (dRTA) patients according to the causal defective gene. METHODS: Twenty-seven non-oriental patients with genetically confirmed dRTA were grouped according to the identified underlying mutations in either ATP6V1B1 (n = 10), ATP6V0A4 (n = 12), or SLC4A1 (n = 5) gene. Demographic features, growth impairment, biochemical variables and presence of deafness, nephrocalcinosis, and urolithiasis at diagnosis were compared among the three groups...
May 3, 2018: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29716758/distal-renal-tubular-acidosis-in-two-children-with-acquired-hypothyroidism
#16
Norma E Guerra-Hernández, Karen V Ordaz-López, Rosa Vargas-Poussou, Laura Escobar-Pérez, Víctor M García-Nieto
Two cases of children diagnosed with renal tubular acidosis (RTA) associated with autoimmune hypothyroidism are presented. Case 1 developed an intestinal ileus at the age of five in the context of a respiratory problem. The tests performed confirmed metabolic acidosis, hyperchloraemia, hypokalaemia and nephrocalcinosis. Case 2 was diagnosed with hypothyroidism at the age of 11, and with RTA two years later. In both patients, the diagnosis of RTA was verified when decreased maximum urinary pCO2 was found. In case 2, a proximal bicarbonate leak (type 3 RTA) was also confirmed...
April 28, 2018: Nefrología: Publicación Oficial de la Sociedad Española Nefrologia
https://www.readbyqxmd.com/read/29707529/nephrolithiasis-and-nephrocalcinosis-in-childhood-risk-factor-related-current-and-future-treatment-options
#17
REVIEW
Alexander Weigert, Bernd Hoppe
Nephrolithiasis, urolithiasis, and nephrocalcinosis (NC) have become common causes of hospitalization and referral to pediatric outpatient clinics. It is of utmost importance to start with diagnostic evaluation directly after the first passage of a kidney stone, or if NC is diagnosed, in each pediatric patient. This is necessary, as in about 80% of children a metabolic reason for stone disease is detected. Current treatment options are scarce and mainly include general measures like an increased fluid intake or elevating the solubility of a lithogenic substance...
2018: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29699796/prevalence-of-nephrocalcinosis-in-pseudohypoparathyroidism-is-screening-necessary
#18
David W Hansen, Todd D Nebesio, Linda A DiMeglio, Erica A Eugster, Erik A Imel
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. Routine screening for nephrocalcinosis in pseudohypoparathyroidism may not be necessary.
April 23, 2018: Journal of Pediatrics
https://www.readbyqxmd.com/read/29692537/brown-fat-necrosis-with-calcifications-in-the-newborn-risk-factors-radiographic-findings-and-clinical-course
#19
Eleza T Golden, Paula Dickson, Stephen Simoneaux
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. Age when calcifications were first detected, location, resolution, and associated laboratory abnormalities were recorded...
January 2018: Indian Journal of Radiology & Imaging
https://www.readbyqxmd.com/read/29676375/bone-marrow-oxalosis-an-unusual-cause-of-cytopenia-in-end-stage-renal-disease-report-of-two-cases
#20
Seema Sharma, Ram Nawal Rao, Krushna Chandra Pani, Paramita Paul
Systemic oxalosis can be either primary or secondary hyperoxaluria. Oxalosis is a phenomenon in which calcium oxalate crystals deposit in various visceral organs leading to bone marrow (BM) failure and recurrent renal stones. We describe two rare cases of BM oxalosis. Hyperoxaluria is strongly associated with nephrolithiasis and nephrocalcinosis. Both the patients presented with recurrent renal stones and a variable degree of BM failure. BM oxalosis should be considered as a possible diagnosis in patients in recurrent nephrolithiasis and cytopenia...
April 2018: Indian Journal of Pathology & Microbiology
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