Clinical features and genetic analysis of 15 Chinese children with dent disease
Renal FailureObjective The clinical characteristics, genetic mutation spectrum, treatment strategies and prognoses of 15 children with Dent disease were retrospectively analyzed to improve pediatricians’ awareness of and attention to this disease.Methods We ...
Qian Li +8 more
doaj +1 more source
Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort [PDF]
, 2016 BACKGROUND: Lowe syndrome (LS) and Dent-2 disease (DD2) are disorders associated with mutations in the OCRL gene and characterized by progressive chronic kidney disease (CKD).
Addis, M +41 more
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Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features. [PDF]
, 2018 Recent evidence has implicated EFL1 in a phenotype overlapping Shwachman-Diamond syndrome (SDS), with the functional interplay between EFL1 and the previously known causative gene SBDS accounting for the similarity in clinical features. Relatively little
Bacino, Carlos A +18 more
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Idiopathic Hypercalciuria: Risk Factors for Symptomatic Forms in Children in the Fundación Cardioinfantil [PDF]
Revista Ciencias de la Salud, 2008 Idiopathic Hypercalciuria (IH) is a metabolicdisease, in most cases asymptomatic, but some patientsexpress complaints consistent with hematuria,polaquiuria, dysuria, urinary incontinence,enuresis and abdominal or back pain, that affectsactivities of ...
Carolina Ulloa Barón, MD, esp.
doaj
Efficacy of surgical treatment of renal form of hyperparathyroidism [PDF]
Саратовский научно-медицинский журнал, 2018 Objective: to study the efficacy of surgical treatment of primary hyperparathyroidism in risk of uronephrolithiasis progression. Material and Methods. The research involved 55 patients, the biochemical and clinical parameters before and after treatment ...
Kovalenko Yu.V. +4 more
doaj
Persistent hypocalcaemia in a Chinese girl due to a novel de-novo activating mutation of the calciumsensing receptor gene [PDF]
, 2011 A significant proportion of patients formerly diagnosed with idiopathic hypoparathyroidism actually have activating mutation of the calcium-sensing receptor (CaSR) gene.
Lam, CW, Tong, CT, Tong, SF, Wong, WC
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The Most Important Metabolic Risk Factors in Recurrent Urinary Stone Formers
Urology Journal, 2011 PURPOSE: To evaluate different urinary factors contributing to idiopathiccalcium stone disease for determining appropriate medical treatments.MATERIALS AND METHODS: Two 24-hour urine samples were collectedfrom 106 male recurrent idiopathic calcium stone ...
Mohaddeseh Azadvari +7 more
doaj
AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis
, 2016 Background: Deletions in the Xq22.3–Xq23 region, inclusive of COL4A5, have been associated with a contiguous gene deletion syndrome characterised by Alport syndrome with intellectual disability (Mental retardation), Midface hypoplasia and Elliptocytosis (
Andreoletti, Gaia +6 more
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Research opportunities in bone demineralization, phase 3 [PDF]
Bone demineralization, calcium responses to weightlessness, endocrine responses to weightlessness, mechanisms of bone loss, biomedical research, pathogenesis, and endocrine effects are ...
Anderson, S. A., Cohn, S. H.
core +2 more sources
Idiopathic, hypercalciuria, children, symptomatic, urine calcium, pediatric [PDF]
, 2014 La hipercalciuria idiopática (HI) es un trastorno metabólico frecuente, con curso clínico, la mayoría de las veces asintomático. Sin embargo, en algunos pacientes se manifiesta clínicamente con hematuria, polaquiuria, disuria, incontinencia urinaria ...
Ulloa Barón, Carolina
core +1 more source