Fanconi Syndrome

Foreman, John W.

doi:10.1016/j.pcl.2018.09.002

Cited by 84 publications

(89 citation statements)

References 18 publications

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“…One of the most investigated tubulopathies is Fanconi syndrome. This is characterized by a massive dysfunction of the proximal tubule that leads to glucosuria, phosphaturia, generalized aminoaciduria, and type 2 renal tubular acidosis [107]. Primary inherited Fanconi syndrome is provoked by a mutation in the NaP i -II in the proximal tubule.…”

Section: Vitamin D In Primitive Renal Tubular Disordersmentioning

confidence: 99%

Protective Role of Vitamin D in Renal Tubulopathies

et al. 2020

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Vitamin D is tightly linked with renal tubular homeostasis: the mitochondria of proximal convoluted tubule cells are the production site of 1α,25-dihydroxyvitamin D3. Patients with renal impairment or tubular injury often suffer from chronic inflammation. This alteration comes from oxidative stress, acidosis, decreased clearance of inflammatory cytokines and stimulation of inflammatory factors. The challenge is to find the right formula for each patient to correctly modulate the landscape of treatment and preserve the essential functions of the organism without perturbating its homeostasis. The complexity of the counter-regulation mechanisms and the different axis involved in the Vitamin D equilibrium pose a major issue on Vitamin D as a potential effective anti-inflammatory drug. The therapeutic use of this compound should be able to inhibit the development of inflammation without interfering with normal homeostasis. Megalin-Cubilin-Amnionless and the FGF23-Klotho axis represent two Vitamin D-linked mechanisms that could modulate and ameliorate the damage response at the renal tubular level, balancing Vitamin D therapy with an effect potent enough to contrast the inflammatory cascades, but which avoids potential severe side effects.

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Section: Vitamin D In Primitive Renal Tubular Disordersmentioning

confidence: 99%

Protective Role of Vitamin D in Renal Tubulopathies

et al. 2020

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“…Развивающаяся гипофосфатемия нарушает нормальную минерализацию костной ткани, а метаболический ацидоз приводит к снижению активности ЩФ. Кроме того, у больных синдромом Фанкони нередко наблюдается относительное снижение уровня витамина D в сыворотке крови [31].…”

Section: патогенез остеомаляции при заболеваниях почекunclassified

Osteomalacia in practice of endocrinologist: etiology, pathogenesis, differential diagnosis with osteoporosis

Golounina¹,

Рунова²,

Fadeyev³

2020

Osteopor Bone Dis

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Osteoporosis is the most common cause of low bone mineral density (BMD) and low-traumatic fractures in adults. However, differential diagnosis should also consider other causes of decreased BMD, including osteomalacia, as treatment for these conditions vary significantly. Osteomalacia is a systemic disorder characterized by decrease in bone strength due to of excessive accumulation of non-mineralized osteoid and uncoupling between bone matrix formation and mineralization. Osteomalacia in adults mostly develops due to severe vitamin D deficiency of any etiology, less often along with kidney pathology, mesenchymal tumors secreting fibroblast growth factor 23 or hereditary metabolic bone diseases. Clinical symptoms of osteomalacia are nonspecific and mostly manifest by generalized diffuse bone pain, muscle weakness, skeletal deformities and often go unnoticed at initial stage of the disease. Histomorphometric examination is the most accurate method of the diagnosis, which allows assessment of bone formation rate and calcification. The utmost priority of the treatment of osteomalacia of any etiology is the elimination of vitamin D deficiency, hypocalcemia, hypophosphatemia and prevention of bone deformities progression and muscle hypotension.

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“…En el caso del niño pequeño los problemas que se plantean, fundamentalmente, son los derivados de una disfunción del riñón, concretamente de sus túbulos proximales (8), conformando el síndrome de Fanconi. Pero no son los únicos, como veremos.…”

Section: Etiopatogeniaunclassified

Child cystinosis

Frías¹

2019

an. ranm

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Resumen Se describe una enfermedad metabólica, ultrarara, de origen génico y de herencia autosómica recesiva. EI 95 % de los pacientes inicia sus manifestaciones clínicas alrededor del 6º mes de la vida (forma infantil); el 5 % restante lo hace en los años de la adolescencia y aún en el adulto. El proceso se expresa desde el comienzo como una alteración ocular y un síndrome de Fanconi, evolucionando años después, hacia una grave insuficiencia renal. EI tratamiento actual asocia principalmente una terapia con cisteamina y un trasplante renal.

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Fanconi Syndrome

Cited by 84 publications

References 18 publications

Protective Role of Vitamin D in Renal Tubulopathies

Protective Role of Vitamin D in Renal Tubulopathies

Osteomalacia in practice of endocrinologist: etiology, pathogenesis, differential diagnosis with osteoporosis

Child cystinosis

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