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1.
PLoS One ; 15(7): e0235759, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32634168

RESUMO

BACKGROUND: Renal abnormalities in HIV infected children may be due to the HIV infection or treatment among other factors. Tenofovir disoproxil fumarate (TDF) is associated with proximal renal tubular dysfunction, proteinuria and decrease in glomerular function. Studies in developed countries have shown variable prevalence of proximal renal tubular dysfunction in children on TDF. There are no known studies in developing countries, including Zimbabwe, documenting the proximal tubular function in HIV infected children on TDF. The aim of this study was to assess renal and proximal renal tubular function in HIV infected children receiving TDF and determine factors associated with proximal tubular dysfunction. METHODS: A descriptive cross-sectional study was conducted in HIV infected patients below 18 years of age attending outpatient clinics at two tertiary hospitals in Harare, who received a TDF-containing antiretroviral regimen for at least six months. Dipstick protein and glucose, serum and urine phosphate and creatinine levels were measured. Fractional excretion of phosphate was calculated. Estimated glomerular filtration rate (eGFR) was calculated using the Schwartz formula. Tubular dysfunction was defined by at least two of the following characteristics: normoglycaemic glycosuria, hypophosphatemia and fractional excretion of phosphate > 18%. FINDINGS: One hundred and ninety-eight children below 18 years of age were recruited over a period of six months. The prevalence of tubular dysfunction was 0.5%. Normoglycaemic glycosuria occurred in 1 (0.5%), fractional excretion of phosphate >18% in 4 (2%), and hypophosphatemia in 22 [11.1%] patients. Severe stunting was associated with increased risk of hypophosphatemia (OR 9.31 CI (1.18, 80.68) p = 0.03). Reduction in estimated glomerular filtration rate (eGFR) < 90ml/min/1.73m2 and proteinuria was evident in 35.9% and 32.8% of children, respectively. Concurrent TDF and HIV-1 protease inhibitor-based regimen was the only independent factor associated with reduction in GFR (OR 4.43 CI (1.32; 4.89) p = 0.016). CONCLUSION: Tubular dysfunction was uncommon in Zimbabwean children on a TDF-based ART regimen. Hypophosphatemia, proteinuria and reduction in eGFR were common. Reassessing renal function using more sensitive biomarkers is needed to examine the long-term tolerance of TDF.


Assuntos
Fármacos Anti-HIV/uso terapêutico , Síndrome de Fanconi/etiologia , Infecções por HIV/complicações , Inibidores da Transcriptase Reversa/uso terapêutico , Tenofovir/uso terapêutico , Adolescente , Fármacos Anti-HIV/efeitos adversos , Criança , Estudos Transversais , Síndrome de Fanconi/induzido quimicamente , Feminino , Taxa de Filtração Glomerular , Infecções por HIV/tratamento farmacológico , Humanos , Masculino , Proteinúria/etiologia , Inibidores da Transcriptase Reversa/efeitos adversos , Tenofovir/efeitos adversos , Centros de Atenção Terciária , Zimbábue
2.
Zhonghua Nei Ke Za Zhi ; 59(2): 161-164, 2020 Feb 01.
Artigo em Chinês | MEDLINE | ID: mdl-32074693

RESUMO

A 49-year-old woman was admitted to hospital with intermittent dizziness and fatigue for 7 years. The symptoms were aggravated and accompanied by bone pain for more than 4 months. She was referred to our hospital. Laboratory tests and imaging findings suggested that acquired Fanconi Syndrome (FS) was associated with smoldering multiple myeloma (MM). Renal biopsy and electron microscopy confirmed the diagnosis of proximal light chain tubular disease (LCPT). LCPT causes proximal tubular dysfunction, which is characterized by the cytoplasmic crystal deposition usually kappa monoclonal light chain in the proximal tubule. MM with FS and LCPT is less common in clinical practice because it is difficult to diagnose. This is a typical case focusing on the differential diagnosis of monoclonal gammopathy of renal significance(MGRS) such as LCPT and plasma cells diseases.


Assuntos
Anemia , Tontura/etiologia , Síndrome de Fanconi/etiologia , Fadiga/etiologia , Nefropatias/complicações , Mieloma Múltiplo , Paraproteinemias/complicações , Proteinúria , Síndrome de Fanconi/diagnóstico , Feminino , Humanos , Cadeias kappa de Imunoglobulina , Nefropatias/diagnóstico , Pessoa de Meia-Idade , Paraproteinemias/diagnóstico
4.
Medicine (Baltimore) ; 98(52): e18478, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31876733

RESUMO

RATIONALE: Peptide receptor radionuclide therapy (PRRT) with radiolabeled somatostatin analogs is a targeted internal radiotherapy method used to treat tumors expressing somatostatin receptors. Concomitant amino acids perfusion is systematically performed in order to inhibit the proximal tubular uptake of the radionuclide and thus prevent nephrotoxicity. PATIENT CONCERNS:: a 67-year-old woman with an intestinal neuroendocrine tumor with multiple lymphadenopathies and liver metastases. The patient displayed a carcinoid syndrome with flushes including facial erythrosis and paresthesia. During the treatment, the patient exhibited emesis and severe cramps. DIAGNOSIS: We describe incomplete proximal tubulopathy induced by an amino acid therapy with [177Lu]-DOTA0-Tyr3-octreotate, which was reversible after treatment discontinuation. This diagnosis relies on metabolic acidosis, hypophosphatemia due to renal loss, tubular proteinuria and generalized aminoaciduria. Serum creatinine remained stable during and after the procedure. INTERVENTIONS: PRRT with radiolabeled somatostatin analog ([177Lu]-DOTA0-Tyr3-octreotate). In order to prevent PRRT induced nephrotoxicity, we used a solution of 20 amino acids including 22 g/L Lysine and 16.8 g/L Arginine. Metoclopramide was successfully used to control vomiting. During the treatment and at the time of cramps, the blood sample showed hypophosphatemia at 0.3 mmol/L justifying intravenous phosphate supplementation. The cramps disappeared after this infusion. OUTCOMES: Hypophosphatemia with low TmPO4/GFR was observed as well as an increase in ß2-microglobulinuria, urinary polyclonal light chains, and amino aciduria involving all amino acids. All these disturbances disappeared the day after the treatment and there was no acute kidney injury after 5 PRRT sessions. Six months after PRRT discontinuation, the patient had neither renal failure nor proximal tubulopathy. Aminoacid induced tubulopathy involves the main ligands of the megalin receptor. It has recently been demonstrated that cilastatin is a megalin inhibitor in the proximal tubule and therefore could represent an attractive alternative to amino acids for this purpose. LESSONS: This case report is a description of a nephroprotective strategy in which partial, and transient tubulopathy is induced, in order to decrease proximal absorption of a tubulotoxic molecule. This little known strategy could be used to prevent proximal tubular injury caused by others megalin-mediated nephrotoxicity medication.


Assuntos
Aminoácidos/efeitos adversos , Síndrome de Fanconi/induzido quimicamente , Octreotida/análogos & derivados , Compostos Organometálicos/efeitos adversos , Idoso , Aminoácidos/administração & dosagem , Feminino , Humanos , Neoplasias Intestinais/radioterapia , Túbulos Renais Proximais/efeitos dos fármacos , Tumores Neuroendócrinos/radioterapia , Octreotida/efeitos adversos , Octreotida/uso terapêutico , Compostos Organometálicos/uso terapêutico , Radioisótopos/efeitos adversos , Radioisótopos/uso terapêutico , Receptores de Peptídeos
5.
Am J Health Syst Pharm ; 76(23): 1930-1933, 2019 Nov 13.
Artigo em Inglês | MEDLINE | ID: mdl-31724039

RESUMO

PURPOSE: Canagliflozin is a sodium-glucose cotransporter-2 (SGLT2) inhibitor which received U.S. Food and Drug Administration approval in 2013 for the treatment of type 2 diabetes mellitus. Fanconi syndrome is a rare acquired disorder which typically occurs in adults as an adverse effect of medications. The literature includes few case reports of Fanconi syndrome caused by the use of canagliflozin. Here, we present a case of Fanconi syndrome in a patient with type 1 diabetes previously miscategorized as type 2 diabetes. SUMMARY: A 32-year-old woman with a 6-year history of type 2 diabetes was started on canagliflozin. Within 2 months of therapy initiation, she began to develop symptoms of high anion gap metabolic acidosis. Further laboratory test results showed severe life-threatening hypophosphatemia. Further investigation by nephrology revealed the presence of Fanconi syndrome. During the admission, she was found to have clinical and laboratory features of type 1 (insulin-dependent) diabetes. After discontinuation of canagliflozin, she was treated with intravenous (i.v.) fluids for hydration, subcutaneous insulin, and i.v. potassium phosphate. She recovered from all metabolic acidosis and electrolyte abnormalities. CONCLUSION: Fanconi syndrome is a rare, exogenously acquired disorder in adults that often develops as an adverse effect of medication therapy. Our patient presented with Fanconi syndrome as a complication of canagliflozin use for the treatment of presumed type 2 diabetes. She was then started on subcutaneous insulin monotherapy for the treatment of type 1 diabetes mellitus.


Assuntos
Canagliflozina/efeitos adversos , Diabetes Mellitus Tipo 1/diagnóstico , Diabetes Mellitus Tipo 2/diagnóstico , Síndrome de Fanconi/induzido quimicamente , Inibidores do Transportador 2 de Sódio-Glicose/efeitos adversos , Adulto , Diabetes Mellitus Tipo 1/sangue , Diabetes Mellitus Tipo 1/tratamento farmacológico , Diabetes Mellitus Tipo 2/sangue , Diabetes Mellitus Tipo 2/tratamento farmacológico , Erros de Diagnóstico , Síndrome de Fanconi/diagnóstico , Feminino , Hemoglobina A Glicada/análise , Humanos , Injeções Subcutâneas , Insulina/administração & dosagem , Túbulos Renais Proximais/efeitos dos fármacos
8.
J Pediatr Endocrinol Metab ; 32(11): 1229-1233, 2019 Nov 26.
Artigo em Inglês | MEDLINE | ID: mdl-31473689

RESUMO

Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive carbohydrate metabolism disorder caused by mutations in SLC2A2 encoding the glucose transporter 2 (GLUT2) protein. The clinical manifestations include hepatomegaly, conditional hypo/hyperglycemia, rickets, short stature and proximal renal tubular dysfunction. GLUT2 regulates monosaccharide homeostasis through sugar sensing and transmembrane transportation during high/low glucose levels. In the current study, we present two siblings suffering from FBS. The patients presented with doll-like facies, failure to gain weight and height, abdominal distension and firm hepatomegaly. The family had a history of deaths of twin male siblings in the neonatal period and twin female siblings at ages 10 months and 2.5 years, respectively. Clinical presentation and biochemical investigations including a complete blood count, electrolytes, liver and renal function tests suggested FBS. Mutation screening of SLC2A2 confirmed the diagnosis with identification of a novel homozygous splice site variant predicting an in-frame deletion [p.(Gly166-S169del)] in the GLUT2 protein. The in-silico analysis predicted the variant to affect the three-dimensional conformation of the fourth transmembrane helix of the encoded protein, rendering the non-functionality of GLUT2 in both patients of the family under study.


Assuntos
Síndrome de Fanconi/genética , Síndrome de Fanconi/patologia , Testes Genéticos/métodos , Transportador de Glucose Tipo 2/genética , Mutação , Processamento de RNA , Pré-Escolar , Análise Mutacional de DNA , Feminino , Genes Recessivos , Humanos , Lactente , Paquistão , Fenótipo , Prognóstico , Deleção de Sequência
9.
Artigo em Chinês | MEDLINE | ID: mdl-31446694

RESUMO

Summary Mitochondrial DNA(mtDNA) deletion is a rare occurrence that results in defects to oxidative phosphorylation. The common clinical presentations of mtDNA deletion vary but include mitochondrial myopathy, Pearson syndrome, Kearns-Sayre syndrome, and progressive external ophthalmoplegia. However, in clinical practice, some cases cannot be classified as any typical syndrome due to the absence or overlap of phenotypes. Here, we report one case of a 5-year-old girl who presented with progressive deterioration of her clinical status, which included systemic electrolyte disturbance, Fanconi syndrome and sensorineural hearing loss. Through a combination of systematic examinations and molecular analyses, mitochondrial disease was confirmed. A novel 6991-base pair deletion(deletion of mtDNA nt 7808-14798) was identified which confirmed molecular pathogeny of patient. Following treatment, the patient was stabilized and her hearing loss improved by hearing aid. This paper provided an important reference for the diagnosis and treatment of similar patients in clinical practice.


Assuntos
DNA Mitocondrial/genética , Perda Auditiva Neurossensorial/genética , Doenças Mitocondriais/genética , Deleção de Sequência , Pré-Escolar , Síndrome de Fanconi/genética , Feminino , Auxiliares de Audição , Perda Auditiva Neurossensorial/terapia , Humanos
11.
Toxicology ; 423: 1-31, 2019 07 01.
Artigo em Inglês | MEDLINE | ID: mdl-31095988

RESUMO

Fanconi's Syndrome (FS) is a disorder characterized by impaired renal proximal tubule function. FS is associated with a vast defect in the renal reabsorption of several chemicals. Inherited and/or acquired conditions seem to be connected with FS. Several xenobiotics including many pharmaceuticals are capable of inducing FS and nephrotoxicity. Although the pathological state of FS is well described, the exact underlying etiology and cellular mechanism(s) of xenobiotics-induced nephrotoxicity, serum electrolytes imbalance, and FS are not elucidated. Constant and high dependence of the renal reabsorption process to energy (ATP) makes mitochondrial dysfunction as a pivotal mechanism which could be involved in the pathogenesis of FS. The current review focuses on the footprints of mitochondrial impairment in the etiology of xenobiotics-induced FS. Moreover, the importance of mitochondria protecting agents and their preventive/therapeutic capability against FS is highlighted. The information collected in this review may provide significant clues to new therapeutic interventions aimed at minimizing xenobiotics-induced renal injury, serum electrolytes imbalance, and FS.


Assuntos
Síndrome de Fanconi/induzido quimicamente , Rim/efeitos dos fármacos , Mitocôndrias/efeitos dos fármacos , Xenobióticos/toxicidade , Animais , Eletrólitos/sangue , Síndrome de Fanconi/fisiopatologia , Humanos , Rim/fisiologia , ATPase Trocadora de Sódio-Potássio/fisiologia , Equilíbrio Hidroeletrolítico
12.
Drug Des Devel Ther ; 13: 1127-1133, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31118563

RESUMO

Adefovir dipivoxil (ADV) is one of the most important nucleostide analogues currently in use for the treatment of chronic hepatitis B virus (HBV) infection. Low-dose ADV-induced nephrotoxicity in most cases was reported to be reversible after the discontinuation of ADV or by decreasing the dose of ADV. In our study, we have 5 documented cases of low-dose ADV-induced hypophosphatemia osteomalacia with or without Fanconi syndrome which were diagnosed in our hospital between 2010 and 2017. Three patients were observed to have a full recovery after the discontinuation of ADV. Two patients had persistently elevated urine ß2-microglobulin levels and out of these two patients, one patient had persistent hypophosphatemia after the cessation of ADV. These cases illustrated that the use of low-dose ADV increased the risk of nephrotoxicity, and in some patients, low-dose ADV-induced nephrotoxicity was not completely reversible. Patients of East Asian origin, especially those with a low body mass index, were prone to a relatively higher risk of developing low-dose ADV-induced nephrotoxicity; therefore, it was worth paying attention to the side effects caused by low-dose ADV.


Assuntos
Adenina/análogos & derivados , Hepatite B Crônica/complicações , Hipofosfatemia/induzido quimicamente , Nefropatias/induzido quimicamente , Nefropatias/prevenção & controle , Organofosfonatos/administração & dosagem , Organofosfonatos/efeitos adversos , Osteomalacia/induzido quimicamente , Adenina/administração & dosagem , Adenina/efeitos adversos , Adenina/uso terapêutico , Idoso , Relação Dose-Resposta a Droga , Síndrome de Fanconi/induzido quimicamente , Síndrome de Fanconi/complicações , Feminino , Hepatite B Crônica/tratamento farmacológico , Humanos , Hipofosfatemia/complicações , Nefropatias/complicações , Masculino , Pessoa de Meia-Idade , Organofosfonatos/uso terapêutico , Osteomalacia/complicações
13.
Nihon Shokakibyo Gakkai Zasshi ; 116(4): 353-359, 2019.
Artigo em Japonês | MEDLINE | ID: mdl-30971673

RESUMO

A woman in her 60s visited our hospital due to elevation of ALP (1357U/L). The patient had been treated with lamivudine (LAM) in 2005, LAM+adefovir (ADV) in 2009, and ADV+entecavir in 2015 for chronic hepatitis B (CH-B). The ALP isozyme was predominantly bone type. Urinary ß-2 microglobulin (MG) and α-1MG increased to 49635µg/L and 64.1mg/L, respectively. Though no fractures were found during bone scintigraphy, the patient was diagnosed with Fanconi syndrome. However, 3 months after switching from ADV to tenofovir alafenamide (TAF), ALP decreased to 856U/L, and urinary ß-2MG and α-1MG decreased to 624µg/L and 6.0mg/L, respectively. Fanconi syndrome should be considered when an increase in ALP is observed in patients treated with ADV, and urinary ß-2MG and α-1MG assays are useful for establishing a diagnosis. Switching from ADV to TAF was an effective therapeutic option.


Assuntos
Adenina/análogos & derivados , Antivirais/uso terapêutico , Síndrome de Fanconi/tratamento farmacológico , Organofosfonatos/uso terapêutico , Adenina/uso terapêutico , Fosfatase Alcalina/metabolismo , Biomarcadores/metabolismo , DNA Viral , Farmacorresistência Viral , Quimioterapia Combinada , Síndrome de Fanconi/diagnóstico , Síndrome de Fanconi/metabolismo , Feminino , Vírus da Hepatite B , Hepatite B Crônica/tratamento farmacológico , Humanos , Pessoa de Meia-Idade , Tomografia Computadorizada por Raios X , Resultado do Tratamento
14.
Yakugaku Zasshi ; 139(4): 641-645, 2019.
Artigo em Japonês | MEDLINE | ID: mdl-30930400

RESUMO

We herein present the case of a 66-year-old Japanese man with Fanconi's syndrome. He had been receiving adefovir dipivoxil (ADV) for the treatment of entecavir (ETV)-resistant chronic hepatitis B (CHB) for four years in his 8-year treatment of hepatocellular carcinoma (HCC), but was referred to our hospital after increased levels of bone pain in his ribs, knees, and ankles. Renal dysfunction, hypophosphatemia, and increased levels of bone alkaline phosphatase were found by a hematology test after admission for treatment of HCC. Radiography and 99m Tc-labeled hydroxymethylene diphosphonate (HMDP) scintigraphy revealed multiple insufficiency fractures in the ribs, knees, ankles, and heels. After switching from ADV to tenofovir disoproxil fumarate (TDF) and treatment with calcitriol and sodium dihydrogenphosphate, the patient's serum phosphate levels slightly increased and renal dysfunction did not improve, but after six months his clinical symptoms disappeared. To detect and prevent adverse effects from ADV, physicians and pharmacists should carefully monitor renal function and serum phosphate levels in patients with hepatitis B virus (HBV) treated for a long time with ADV.


Assuntos
Adenina/análogos & derivados , Síndrome de Fanconi/induzido quimicamente , Fraturas Ósseas/induzido quimicamente , Hepatite B Crônica/tratamento farmacológico , Organofosfonatos/efeitos adversos , Organofosfonatos/uso terapêutico , Osteomalacia/induzido quimicamente , Adenina/efeitos adversos , Adenina/uso terapêutico , Idoso , Carcinoma Hepatocelular/complicações , Hepatite B Crônica/complicações , Humanos , Hipofosfatemia/induzido quimicamente , Neoplasias Hepáticas/complicações , Masculino , Fatores de Tempo
15.
J Med Case Rep ; 13(1): 99, 2019 Apr 20.
Artigo em Inglês | MEDLINE | ID: mdl-31003599

RESUMO

BACKGROUND: Adefovir dipivoxil is a nucleotide analogue that is approved for treatment of chronic hepatitis B. Adefovir dipivoxil is associated with proximal tubular dysfunction, resulting in Fanconi syndrome, which can cause secondary hypophosphatemic osteomalacia. We describe a case of a patient with hypophosphatemic osteomalacia secondary to Fanconi syndrome induced by adefovir dipivoxil concomitantly with osteoporosis in whom clinical symptoms were improved by adding denosumab (a human monoclonal antibody targeting the receptor activator of nuclear factor-κB ligand) to preceding administration of vitamin D3. CASE PRESENTATION: A 60-year-old Japanese man had been receiving low-dose adefovir dipivoxil (10 mg/day) to treat chronic hepatitis B for approximately 5 years. He presented to an orthopedic surgeon with severe pain of the right hip and no trauma history, and fracture of the neck of the right femur was identified. In addition, 99mTc-hydroxymethylene diphosphate scintigraphy revealed significantly abnormal uptake in the bilateral ribs, hips, and knees, and he was therefore referred to our university hospital for evaluation of multiple pathological fractures. We diagnosed hypophosphatemic osteomalacia due to Fanconi syndrome induced by adefovir dipivoxil therapy. Although we reduced the patient's adefovir dipivoxil dose and added calcitriol (active vitamin D3), he did not respond and continued to complain of bone pain. Several bone resorption markers and bone-specific alkaline phosphatase were also persistently elevated. Therefore, we added denosumab to vitamin D3 supplementation for treatment of excessive bone resorption. Two months after initiation of denosumab, his hip and knee pain was relieved, along with a decrease in serum alkaline phosphatase and some bone resorption markers. CONCLUSIONS: Although denosumab is not generally an appropriate treatment for acquired Fanconi syndrome, it may be useful for patients who have hypophosphatemic osteomalacia due to adefovir dipivoxil-induced Fanconi syndrome associated with excessive bone resorption. However, clinicians should keep in mind that if denosumab is administered to patients with hypophosphatemic osteomalacia accompanied by excessive bone resorption, adequate vitamin D and/or phosphate supplementation should be done before administration of denosumab.


Assuntos
Conservadores da Densidade Óssea/administração & dosagem , Denosumab/administração & dosagem , Síndrome de Fanconi/induzido quimicamente , Hipofosfatemia , Osteomalacia , Adenina/efeitos adversos , Adenina/análogos & derivados , Adulto , Antivirais/efeitos adversos , Síndrome de Fanconi/tratamento farmacológico , Hepatite B/tratamento farmacológico , Humanos , Hipofosfatemia/induzido quimicamente , Hipofosfatemia/tratamento farmacológico , Masculino , Pessoa de Meia-Idade , Organofosfonatos/efeitos adversos , Osteomalacia/induzido quimicamente , Osteomalacia/tratamento farmacológico , Tomografia Computadorizada de Emissão , Resultado do Tratamento
16.
Hum Mutat ; 40(7): 983-995, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-30950137

RESUMO

Deleterious variants in SLC2A2 cause Fanconi-Bickel Syndrome (FBS), a glycogen storage disorder, whereas less common variants in SLC2A2 associate with numerous metabolic diseases. Phenotypic heterogeneity in FBS has been observed, but its causes remain unknown. Our goal was to functionally characterize rare SLC2A2 variants found in FBS and metabolic disease-associated variants to understand the impact of these variants on GLUT2 activity and expression and establish genotype-phenotype correlations. Complementary RNA-injected Xenopus laevis oocytes were used to study mutant transporter activity and membrane expression. GLUT2 homology models were constructed for mutation analysis using GLUT1, GLUT3, and XylE as templates. Seventeen FBS variants were characterized. Only c.457_462delCTTATA (p.Leu153_Ile154del) exhibited residual glucose uptake. Functional characterization revealed that only half of the variants were expressed on the plasma membrane. Most less common variants (except c.593 C>A (p.Thr198Lys) and c.1087 G>T (p.Ala363Ser)) exhibited similar GLUT2 transport activity as the wild type. Structural analysis of GLUT2 revealed that variants affect substrate-binding, steric hindrance, or overall transporter structure. The mutant transporter that is associated with a milder FBS phenotype, p.Leu153_Ile154del, retained transport activity. These results improve our overall understanding of the underlying causes of FBS and impact of GLUT2 function on various clinical phenotypes ranging from rare to common disease.


Assuntos
Síndrome de Fanconi/genética , Transportador de Glucose Tipo 2/química , Transportador de Glucose Tipo 2/metabolismo , Mutação , Animais , Sítios de Ligação , Membrana Celular/metabolismo , Síndrome de Fanconi/metabolismo , Feminino , Estudos de Associação Genética , Glucose/metabolismo , Transportador de Glucose Tipo 2/genética , Humanos , Modelos Moleculares , Oócitos/metabolismo , Xenopus
17.
Int J Rheum Dis ; 22(6): 1152-1156, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30968563

RESUMO

Mitochondrial diseases are a group of disorders presenting mainly during infancy due to pathological dysfunction of the mitochondrial respiratory chain. We report a case of mitochondrial disease in an elderly woman complaining of generalized myalgia. A 69-year-old woman was admitted due to fatigue, general weakness, and a drowsy mental status. A brain magnetic resonance imaging (MRI) demonstrated multifocal lesions of increased T2 signal intensity, and laboratory findings were consistent with Fanconi syndrome. During her hospital course, she developed seizures, stress-induced cardiomyopathy, and respiratory failure. A muscle biopsy demonstrated ragged-red fibers in the muscle tissues seen in mitochondrial myopathy. We confirmed an 8 kb deletion in her mitochondrial DNA. Following treatment with l-carnitine, coenzyme Q10, and supportive measures, brain lesions on MRI scans disappeared, and the general symptoms gradually improved.


Assuntos
Síndrome de Fanconi/diagnóstico , Miopatias Mitocondriais/diagnóstico , Vasculite Sistêmica/diagnóstico , Idade de Início , Idoso , Diagnóstico Diferencial , Síndrome de Fanconi/genética , Síndrome de Fanconi/terapia , Feminino , Humanos , Miopatias Mitocondriais/genética , Miopatias Mitocondriais/terapia , Valor Preditivo dos Testes , Prognóstico
18.
J Nippon Med Sch ; 86(1): 2-9, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30918151

RESUMO

Abnormal proliferation of plasma cells and some monoclonal B cells frequently cause the secretion of monoclonal immunoglobulins or immunoglobulin fragments into the serum, causing monoclonal gammopathy, which leads to various diseases including renal diseases. Therefore, monoclonal gammopathy is frequently associated with kidney diseases, including glomerular and tubulointerstitial diseases. Glomerular disease, with the deposition of monoclonal immunoglobulins or their components, includes monoclonal immunoglobulin deposition disease (MIDD), AL or AH amyloidosis, type I cryoglobulinemia, proliferative glomerulonephritis with monoclonal IgG deposits (PGNMID), immunotactoid glomerulopathy, and fibrillary glomerulonephritis. In addition, tubulointerstitial diseases with the deposition of monoclonal immunoglobulins or their components are constituted by light chain (myeloma) cast nephropathy, light chain associated Fanconi's syndrome (light chain proximal [crystal] tubulopathy), and crystal-storing histiocytosis. In the present review article, we demonstrate the clinicopathological characteristics of MIDD, which is one of the representative diseases of plasma cell dyscrasias, and discuss various renal diseases with the deposition of monoclonal immunoglobulins or their components in glomeruli and the tubulointerstitium. We recommend that these renal diseases are arranged as one disease category, "renal diseases with deposition of monoclonal immunoglobulins or their components", in order to simplify the understanding of complicated diseases in plasma cell dysplasia.


Assuntos
Paraproteinemias , Anticorpos Monoclonais/metabolismo , Crioglobulinemia , Síndrome de Fanconi , Glomerulonefrite , Histiocitose , Humanos , Imunoglobulina G/metabolismo , Nefropatias/etiologia , Glomérulos Renais/metabolismo , Túbulos Renais/metabolismo , Paraproteinemias/complicações , Paraproteinemias/metabolismo
19.
Indian J Pediatr ; 86(6): 555-557, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30835073

RESUMO

Fibroblast growth factor-23 (FGF23) is central to phosphate homeostasis. The author examined if blood levels of FGF23 allow discrimination of classic hypophosphatemic rickets from other causes of non-nutritional rickets with hypophosphatemia. Forty-two children (median age: 102 mo) with non-nutritional rickets and hypophosphatemia were clinically classified as having distal renal tubular acidosis (RTA, n = 12), Fanconi syndrome (n = 8), classic hypophosphatemic rickets (n = 11), vitamin D dependent rickets (n = 7) and Dent disease (n = 4). Median blood FGF23 (measured by C-terminal ELISA) concentrations were similar in all groups (P = 0.24). These levels did not correlate with phosphate, tubular maximum for phosphate, calcium, 25-hydroxyvitamin D, creatinine, and parathormone levels. Patients with distal RTA showed variable degree of proximal tubular dysfunction that resolved following alkali supplements. Blood FGF23 levels did not satisfactorily differentiate classic hypophosphatemic rickets from other causes of hypophosphatemic rickets.


Assuntos
Fatores de Crescimento de Fibroblastos/sangue , Raquitismo Hipofosfatêmico/sangue , Acidose Tubular Renal/sangue , Acidose Tubular Renal/diagnóstico , Criança , Doença de Dent/sangue , Doença de Dent/diagnóstico , Diagnóstico Diferencial , Ensaio de Imunoadsorção Enzimática , Síndrome de Fanconi/sangue , Síndrome de Fanconi/diagnóstico , Feminino , Humanos , Masculino , Raquitismo/sangue , Raquitismo/diagnóstico , Raquitismo Hipofosfatêmico/diagnóstico
20.
J. bras. nefrol ; 41(1): 131-141, Jan.-Mar. 2019. tab
Artigo em Inglês | LILACS | ID: biblio-1002426

RESUMO

Abstract Care for patients with chronic and rare diseases is complex, especially considering the lack of knowledge about the disease, which makes early and precise diagnosis difficult, as well as the need for specific tests, sometimes of high complexity and cost. Added to these factors are difficulties in obtaining adequate treatment when available, in raising patient and family awareness about the disease and treatment compliance. Nephropathic cystinosis is among these diseases. After more than 20 years as a care center for these patients, the authors propose a follow-up protocol, which has been used with improvement in the quality of care and consists of a multidisciplinary approach, including care provided by a physician, nurse, psychologist, nutritionist and social worker. In this paper, each field objectively exposes how to address points that involve the stages of diagnosis and its communication with the patient and their relatives or guardians, covering the particularities of the disease and the treatment, the impact on the lives of patients and families, the approach to psychological and social issues and guidelines on medications and diets. This protocol could be adapted to the follow-up of patients with other rare diseases, including those with renal involvement. This proposal is expected to reach the largest number of professionals involved in the follow-up of these patients, strengthening the bases for the creation of a national protocol, observing the particularities of each case.


Resumo A assistência a pacientes com doenças crônicas e raras é complexa, principalmente pela falta de disseminação de conhecimento sobre a doença, o que dificulta o diagnóstico preciso e precoce, além da necessidade da realização de exames específicos, por vezes de alta complexidade e custo. Somam-se a esses fatores dificuldades na obtenção de tratamento adequado quando disponível, na conscientização do paciente e da família sobre a doença e na aderência ao tratamento. A cistinose nefropática está entre essas doenças. Após mais de 20 anos como centro de atendimento a esses pacientes, os autores propõem um protocolo de seguimento, o qual vem sendo empregado com melhora na qualidade da assistência e consiste de uma abordagem multidisciplinar, incluindo, principalmente, atendimento prestado por médico, enfermeiro, psicólogo, nutricionista e assistente social. Neste artigo, cada área expõe de maneira objetiva como abordar pontos que envolvem as etapas do diagnóstico e sua comunicação ao paciente e a seus familiares ou responsáveis, abrangendo as particularidades da doença e do tratamento, o impacto na vida do paciente e de sua família, a abordagem das questões psicológicas e sociais e orientações quanto a medicamentos e dietas. Considera-se que este protocolo poderia ser adaptado ao seguimento de pacientes portadores de outras doenças raras, incluindo aquelas com envolvimento renal. Com essa proposta, espera-se alcançar o maior número de profissionais envolvidos no seguimento desses pacientes, fortalecendo as bases para a criação de um protocolo nacional, observando-se as particularidades de cada caso.


Assuntos
Humanos , Masculino , Feminino , Recém-Nascido , Lactente , Pré-Escolar , Criança , Adolescente , Adulto , Adulto Jovem , Cistinose/diagnóstico , Cistinose/terapia , Doenças Raras/diagnóstico , Síndrome de Fanconi/diagnóstico , Síndrome de Fanconi/tratamento farmacológico , Equipe de Assistência ao Paciente , Gravidez , Protocolos Clínicos , Diálise Renal , Transplante de Rim , Resultado do Tratamento , Cistinose/complicações , Cistinose/psicologia , Doenças Raras/complicações , Doenças Raras/psicologia , Doenças Raras/tratamento farmacológico , Diálise , Síndrome de Fanconi/complicações , Síndrome de Fanconi/psicologia , Falência Renal Crônica/etiologia
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