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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
3.
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
4.
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
5.
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
6.
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
7.
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
8.
J Bras Nefrol ; 41(1): 131-141, 2019.
Artigo em Inglês, Português | MEDLINE | ID: mdl-30465592

RESUMO

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.


Assuntos
Cistinose/diagnóstico , Cistinose/tratamento farmacológico , Síndrome de Fanconi/diagnóstico , Síndrome de Fanconi/tratamento farmacológico , Doenças Raras/diagnóstico , Doenças Raras/tratamento farmacológico , Adolescente , Adulto , Criança , Pré-Escolar , Protocolos Clínicos , Cistinose/complicações , Cistinose/psicologia , Diálise , Síndrome de Fanconi/complicações , Síndrome de Fanconi/psicologia , Feminino , Humanos , Lactente , Recém-Nascido , Falência Renal Crônica/etiologia , Transplante de Rim , Masculino , Equipe de Assistência ao Paciente , Gravidez , Doenças Raras/complicações , Doenças Raras/psicologia , Diálise Renal , Resultado do Tratamento , Adulto Jovem
9.
Pediatr Clin North Am ; 66(1): 159-167, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30454741

RESUMO

Fanconi syndrome, also known as the DeToni, Debré, Fanconi syndrome is a global dysfunction of the proximal tubule characterized by glucosuria, phosphaturia, generalized aminoaciduria, and type II renal tubular acidosis. Often there is hypokalemia, sodium wasting, and dehydration. In children, it typically is caused by inborn errors of metabolism, principally cystinosis. In adults, it is mainly caused by medications, exogenous toxins, and heavy metals. Treatment consists of treating the underlying cause and replacing the lost electrolytes and volume.


Assuntos
Síndrome de Fanconi/diagnóstico , Síndrome de Fanconi/terapia , Criança , Diagnóstico Diferencial , Humanos
10.
Intern Med ; 58(6): 821-825, 2019 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-30333420

RESUMO

A 68-year-old man with type 2 diabetes mellitus and chronic hepatitis B infection was referred to the nephrology department before planned surgery for hepatocellular carcinoma. He had been receiving low-dose adefovir dipivoxil (ADV) for 11 years. Laboratory findings revealed impaired re-absorption in the proximal renal tubules. He had been diagnosed with diabetic kidney disease and osteomalacia due to vitamin D deficiency; thus, ADV was not discontinued until he was referred to us. In this case, concomitant diabetes mellitus and vitamin D deficiency might have prevented the early diagnosis of ADV-induced Fanconi syndrome.


Assuntos
Adenina/análogos & derivados , Antivirais/efeitos adversos , Nefropatias Diabéticas/diagnóstico , Síndrome de Fanconi/diagnóstico , Hipofosfatemia/diagnóstico , Organofosfonatos/efeitos adversos , Osteomalacia/diagnóstico , Deficiência de Vitamina D/diagnóstico , Adenina/efeitos adversos , Adenina/uso terapêutico , Idoso , Antivirais/uso terapêutico , Diabetes Mellitus Tipo 2/complicações , Erros de Diagnóstico , Síndrome de Fanconi/induzido quimicamente , Síndrome de Fanconi/complicações , Hepatite B Crônica/complicações , Hepatite B Crônica/tratamento farmacológico , Humanos , Hipofosfatemia/etiologia , Masculino , Organofosfonatos/uso terapêutico , Osteomalacia/etiologia
11.
Acta Clin Belg ; 74(6): 460-464, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30501482

RESUMO

We describe a boy who presented with neonatal hypotonia, followed by delayed motor development and growth impairment. Further evaluation revealed rickets caused by proximal renal tubular dysfunction. At age 3, the boy exhibited dysmorphic features and bilateral cataract. Genetic analysis of the OCRL gene showed a novel variant in exon 13: c.1250T>A, p.Val417Asp; in silico and segregation analysis confirmed the variant to be pathogenic, compatible with the diagnosis of the oculocerebrorenal syndrome of Lowe. Lowe syndrome is a rare multisystemic disorder; the diagnostic triad requires involvement of the eye, central nervous system and the proximal renal tubule. Typical clinical features are congenital cataract, glaucoma, hypotonia, mental and behavioral problems, benign skin lesions, platelet dysfunction and dental abnormalities. Phenotypic features early in life may be nonspecific, which is illustrated by this case with a late manifestation of cataract. Because an early diagnosis can lead to better counseling and treatment, we suggest urinary testing for proteinuria as a part of the evaluation of children with unexplained hypotonia.


Assuntos
Hipotonia Muscular , Síndrome Oculocerebrorrenal , Monoéster Fosfórico Hidrolases/genética , Catarata/diagnóstico , Catarata/etiologia , Pré-Escolar , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/etiologia , Diagnóstico Precoce , Intervenção Médica Precoce , Síndrome de Fanconi/diagnóstico , Síndrome de Fanconi/etiologia , Testes Genéticos/métodos , Humanos , Masculino , Transtornos Motores/diagnóstico , Transtornos Motores/etiologia , Hipotonia Muscular/diagnóstico , Hipotonia Muscular/genética , Hipotonia Muscular/urina , Mutação , Síndrome Oculocerebrorrenal/diagnóstico , Síndrome Oculocerebrorrenal/genética , Síndrome Oculocerebrorrenal/fisiopatologia
12.
BMC Nephrol ; 19(1): 274, 2018 10 19.
Artigo em Inglês | MEDLINE | ID: mdl-30340545

RESUMO

BACKGROUND: Tubulo-interstitial Nephritis and Uveitis (TINU) syndrome is a rare oculo-renal inflammatory disease. Renal tubular defects are usually found, but full proximal tubular abnormalities have rarely been described. CASE PRESENTATION: We report the case of a 55-year old woman, native from Morocco, presenting with bilateral, non-granulomatous, anterior uveitis, mild renal insufficiency, leucocyturia and glycosuria. Further work-up showed hypophosphatemia and hyperphosphaturia, hypouricemia and hyperuricosuria, and hyper aminoaciduria, consistent with Fanconi syndrome. A kidney biopsy was obtained and showed diffuse interstitial infiltrates with tubular necrosis. The patient improved after the initiation of a corticosteroid therapy, with tapering dose. CONCLUSIONS: We reviewed the literature and found nine similar cases. This association mostly occurs in adult woman, without current evidence for an ethnic predilection, unlike previously reported. The renal prognosis seems favorable after corticosteroid therapy, even in case of severe renal injury. Nonetheless mild tubular defects may persist after treatment or spontaneous remission.


Assuntos
Síndrome de Fanconi/complicações , Síndrome de Fanconi/diagnóstico , Nefrite Intersticial/complicações , Nefrite Intersticial/diagnóstico , Uveíte/complicações , Uveíte/diagnóstico , Feminino , Humanos , Pessoa de Meia-Idade
13.
Medicine (Baltimore) ; 97(36): e12027, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30200082

RESUMO

RATIONALE: Renal Fanconi syndrome (FS) is a rare complication of monoclonal gammopathy. It is characterized by the impairment of renal proximal tubular function leading to normoglycemic glycosuria, aminoaciduria, hypophosphatemia, hypouricemia and proximal renal tubular acidosis. Renal impairment in monoclonal gammopathy, without fulfilling the criteria of multiple myeloma, is categorized as monoclonal gammopathy of renal significance (MGRS). PATIENT CONCERNS: A 54-year-old male presented with progressively aggravated bone pain and limitation of activity was admitted to our department. A proximal renal tubular damage was suggested by hypophosphatemia, compensated metabolic acidosis, renal glycosuria, aminoaciduria, and hypouricemia. M-protein of IgA kappa was detected by immunofixation electrophoresis. Mildly increased plasma cells were found in bone marrow cytomorphologic examination. Renal biopsy revealed diffuse linear monoclonal IgA-kappa light chain deposits along tubular basement membranes (TBMs), while lambda was negative. Electron microscopy showed granular electron-dense deposits along the outer aspect of TBMs. DIAGNOSES: The patient was diagnosed as FS induced osteomalacia secondary to monoclonal gammopathy of renal significance (MGRS) (IgA-κ type) and LCDD. INTERVENTIONS: He was treated with bortezomib, supplementation by phosphate, alkali agents, and active vitamin D. He responded well to the treatment symptomatically. OUTCOMES: We reported a rare case of adult acquired FS with hypophosphatemic osteomalacia secondary to LCDD associated with MGRS and the patient was successfully treated with bortezomib. LESSONS: Although few cases of LCDD with isolated symptoms of tubulointerstitial nephropathy, rather than glomerular symptoms have been reported. It still needs to be recognized as a differential diagnosis in monoclonal gammopathy.


Assuntos
Síndrome de Fanconi/etiologia , Cadeias kappa de Imunoglobulina/análise , Nefropatias/complicações , Paraproteinemias/complicações , Diagnóstico Diferencial , Síndrome de Fanconi/diagnóstico , Síndrome de Fanconi/tratamento farmacológico , Síndrome de Fanconi/patologia , Humanos , Nefropatias/diagnóstico , Nefropatias/tratamento farmacológico , Nefropatias/patologia , Masculino , Pessoa de Meia-Idade , Paraproteinemias/diagnóstico , Paraproteinemias/tratamento farmacológico , Paraproteinemias/patologia
14.
BMC Nephrol ; 19(1): 144, 2018 06 15.
Artigo em Inglês | MEDLINE | ID: mdl-29907094

RESUMO

BACKGROUND: Arthrogryposis-Renal dysfunction-Cholestasis syndrome (ARC, MIM#208085) is a rare multisystem disease due to mutations in the VPS33B and VIPAR genes, both involved in maintaining apical-basolateral cell polarity. The correlation between mutations and phenotype in the ARC Syndrome is not well described. We report on a 6 year old patient who presented with severe renal Fanconi as first manifestation of ARC related to a combined de novo mutation in the VPS33B gene. CASE PRESENTATION: A 6 year old girl presented during the first year of life with severe renal Fanconi as the first manifestation of ARC-Syndrome. This case presents all defining features of ARC syndrome (including liver, skin and articular manifestations) with predominantly renal impairment at presentation. This novel mutation may be associated with a pronounced renal phenotype in ARC. Furthermore, we report on the successful use of LDL-Apheresis and biliodigestive derivation for treatment of cholestatic pruritus with encouraging results. CONCLUSION: ARC is a heterogeneous disorder with early mortality. This case report contributes to a better understanding of this rare disorder, describes a novel mutation in the VPS33B gene and presents an innovative rescue treatment approach.


Assuntos
Artrogripose/diagnóstico , Artrogripose/terapia , Colestase/diagnóstico , Colestase/terapia , Gerenciamento Clínico , Síndrome de Fanconi/diagnóstico , Síndrome de Fanconi/terapia , Insuficiência Renal/diagnóstico , Insuficiência Renal/terapia , Índice de Gravidade de Doença , Artrogripose/complicações , Remoção de Componentes Sanguíneos/métodos , Criança , Colestase/complicações , Síndrome de Fanconi/complicações , Feminino , Humanos , Insuficiência Renal/complicações
15.
Am J Case Rep ; 19: 392-396, 2018 Apr 03.
Artigo em Inglês | MEDLINE | ID: mdl-29610453

RESUMO

BACKGROUND Sjögren's syndrome is a chronic inflammatory autoimmune disease, which is also known as sicca syndrome, due to the symptoms of dry eyes and dry mouth, and is associated with other connective tissue diseases and autoimmune diseases. Sjögren's syndrome can also be associated with renal involvement. Fanconi's syndrome is associated with impaired reabsorption in the proximal renal tubule associated with tubulointerstitial nephritis and is associated with renal tubular acidosis and hypophosphatemia. Osteomalacia is a rare association with Sjögren's syndrome, which may result from renal disease. CASE REPORT We report the case of a 34-year-old woman who presented with xerostomia, xerophthalmia, bone fractures, and osteomuscular pain. A Schirmer test showed reduced tear production, and a biopsy of a minor salivary gland of the lip, with high titers of antinuclear antibodies (ANA), and positive anti-SSA/Ro and anti-SSB/La antibodies confirmed the diagnosis of Sjögren's syndrome. Serum and urinary laboratories tests and clinical manifestations confirmed Fanconi's syndrome associated with osteomalacia. The patient was treated with potassium supplements, 25-hydroxyvitamin D (25(OH)D), hydroxychloroquine, mycophenolate mofetil, and prednisone, with a favorable response. CONCLUSIONS This case is of a rare association between Sjögren's syndrome, Fanconi's syndrome, and osteomalacia. Even though these are rare clinical associations, early detection can improve the quality of life and prevent further complications.


Assuntos
Síndrome de Fanconi/complicações , Osteomalacia/complicações , Síndrome de Sjogren/etiologia , Adulto , Antibióticos Antineoplásicos/uso terapêutico , Antirreumáticos/uso terapêutico , Biópsia , Quimioterapia Combinada , Síndrome de Fanconi/diagnóstico , Feminino , Glucocorticoides/uso terapêutico , Humanos , Hidroxicloroquina/uso terapêutico , Imagem por Ressonância Magnética , Ácido Micofenólico/uso terapêutico , Osteomalacia/diagnóstico , Potássio/uso terapêutico , Prednisona/uso terapêutico , Síndrome de Sjogren/diagnóstico , Síndrome de Sjogren/tratamento farmacológico , Tomografia Computadorizada por Raios X , Vitamina D/análogos & derivados , Vitamina D/uso terapêutico
17.
Internist (Berl) ; 59(8): 861-867, 2018 08.
Artigo em Alemão | MEDLINE | ID: mdl-29671012

RESUMO

This article presents a case of cystinosis in a young man. Diagnosis of the disease and the problem of transition to adult care are described. Cystinosis is a rare lysosomal storage disease with first manifestation in early childhood presenting as renal Fanconi syndrome. Without treatment, the disease leads to severe health impairment. Due to the rarity of the disease, a correct diagnosis is often delayed. Without treatment, cystinosis often leads to end-stage renal failure, blindness, hypothyroidism, diabetes mellitus, and rickets. Cystine-depleting therapy with cysteamine significantly improves mortality and quality of life.


Assuntos
Cisteamina/uso terapêutico , Eliminadores de Cistina/uso terapêutico , Cistina/sangue , Cistina/metabolismo , Cistinose/diagnóstico , Cistinose/tratamento farmacológico , Síndrome de Fanconi/tratamento farmacológico , Adulto , Criança , Pré-Escolar , Cisteamina/administração & dosagem , Eliminadores de Cistina/administração & dosagem , Síndrome de Fanconi/diagnóstico , Síndrome de Fanconi/etiologia , Humanos , Rim/patologia , Lisossomos/metabolismo , Masculino , Qualidade de Vida
18.
J Am Anim Hosp Assoc ; 54(3): 173-178, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29558216

RESUMO

Three juvenile male Irish wolfhound littermates presented with marked polyuria and polydipsia. The four female siblings were apparently unaffected. Diagnostic testing revealed glucosuria with normoglycemia, generalized aminoaciduria, hypokalemia and metabolic acidosis consistent with Fanconi syndrome. Renal ultrasonographic and histologic findings are presented. Cases were managed with a supplementation regimen based on a treatment protocol for Fanconi syndrome in basenjis. These dogs did not have angular limb deformities as documented previously in juvenile canine siblings with Fanconi syndrome. Fanconi syndrome has not been previously described in Irish wolfhound siblings.


Assuntos
Doenças do Cão/diagnóstico , Síndrome de Fanconi/veterinária , Erros Inatos do Metabolismo dos Aminoácidos , Animais , Cães , Síndrome de Fanconi/diagnóstico , Rim , Masculino , Irmãos
20.
Pediatr Dev Pathol ; 21(1): 84-90, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-28382841

RESUMO

Fanconi-Bickel syndrome is a rare autosomal recessive disorder due to mutations in the facilitative glucose transporter 2 ( GLUT2 or SLC2A2) gene resulting in excessive glycogen storage predominantly in the liver and kidney. Previous case reports of this condition have described liver biopsies with glycogen storage and variable steatosis and/or fibrosis. Unlike in other types of glycogen storage disease, hepatocellular adenomas and carcinomas have not been described to date in this syndrome. A 6-year-old boy with consanguineous parents had short stature, poorly controlled rickets, hepatosplenomegaly, and renal tubular dysfunction clinically consistent with Fanconi-Bickel Syndrome. Sequencing of the SLC2A2 gene showed a homozygous variant of unknown significance [c.474A > C (p.Arg158Ser)] causing a missense mutation in an evolutionarily conserved residue. An incidental single hepatic lesion was discovered on imaging, and subsequent resection showed a 2.6 cm well-differentiated hepatocellular carcinoma with moderate atypia, diffuse immunoreactivity for glypican-3, and nuclear b-catenin, and with focal complete loss of the reticulin framework. The non-neoplastic liver showed marked glycogen accumulation with mild periportal fibrosis, rare bridging fibrosis, and no regenerative or adenomatous nodules. By electron microscopy, tumor cells had pleomorphic nuclei, prominent nucleoli, and scant cytoplasm with numerous mitochondria. Well-developed canaliculi were occasionally seen. The non-neoplastic liver showed glycogenosis with abundant cytoplasmic free (non-membrane bound) glycogen. Hepatocellular carcinoma should be considered as a possible complication of Fanconi-Bickel syndrome. This well differentiated carcinoma did not appear to be associated with hepatic adenomatosis as has been described in some hepatocellular carcinomas associated with other hepatic glycogen storage disorders. The nuclear beta-catenin immunoreactivity indicates a role for the Wnt signaling pathway in the pathogenesis of this tumor.


Assuntos
Carcinoma Hepatocelular/etiologia , Síndrome de Fanconi/diagnóstico , Neoplasias Hepáticas/etiologia , Carcinoma Hepatocelular/diagnóstico , Criança , Síndrome de Fanconi/complicações , Humanos , Neoplasias Hepáticas/diagnóstico , Masculino
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