Fanconi syndrome secondary to primary biliary cholangitis: a case report / 中华肾脏病杂志

Primary biliary cirrhosis/cholangitis is an autoimmune disease. Renal tubular acidosis is a common form in PBC cases, but Fanconi syndrome is rarely reported. The paper reported a 66-year-old female patient with fatigue, renal insufficiency and elevated bile duct enzymes. The patient presented with type 2 proximal renal tubular acidosis and complete Fanconi syndrome. Laboratory examinations showed high-titer-positive anti-mitochondrial antibodies, elevated serum IgM, and type 3 cryoglobulinemia. Renal biopsy revealed interstitial nephritis, and electron micrographs showed abnormal mitochondria in proximal tubular epithelial cells. The patient's renal function ameliorated, and acid-base imbalance and electrolyte disturbances were corrected after high-dose glucocorticoid treatment.

Síndrome de Fanconi por agentes quimioterapéuticos: serie de casos y revisión de la literatura

Introducción: múltiples agentes quimioterapéuticos que se usan comúnmente pueden causar síndrome de Fanconi (SF) completo o parcial. El SF es una tubulopatía proximal que produce alteraciones electrolíticas y ácido-básicas, donde se evidencia pérdida de glucosa, aminoácidos, calcio, fósforo, potasio, ácido úrico y se produce acidosis metabólica por pérdida de bicarbonato. El SF usualmente no es reportado y muchas veces no se realiza el diagnóstico. Objetivo: resaltar la importancia del monitoreo urinario y sérico en pacientes que estén sometidos a quimioterapia, así como describir la literatura reciente acerca de la asociación entre agentes quimioterapéuticos y síndrome de Fanconi parcial o completo. Presentación de los casos: se presenta una serie de casos de pacientes pediátricos oncológicos con función renal preservada, donde se produjeron diferentes manifestaciones de nefrotoxicidad tubular proximal secundaria a agentes quimioterapéuticos como antimetabolitos, agentes alquilantes y antraciclinas. Discusión y conclusión: el espectro del SF puede ir de una tubulopatía proximal generalizada o completa a alteraciones parciales en la reabsorción de electrolitos. Se debe reconocer la importancia del monitoreo sérico y urinario en pacientes con lesiones tumorales que van a ser sometidos a quimioterapias con agentes potencialmente nefrotóxicos; asimismo, tener en cuenta la dosis, la frecuencia y la combinación de agentes quimioterapéuticos, con el fin de prevenir y tratar complicaciones de toxicidad renal, incluyendo SF completo o parcial.

Introduction: Several commonly used chemotherapeutic agents can cause complete or partial Fanconi syndrome (FS). FS is a proximal tubulopathy that produces electrolyte and acid base disorders where there is loss of glucose, amino acids, calcium, phosphorus, potassium, uric acid and metabolic acidosis occurs due to loss of bicarbonate. FS is not usually reported, and the diagnosis is often misled. Purpose: To highlight the importance of urinary and serum monitoring in patients undergoing chemotherapy, as well as describe the recent literature about the association between chemotherapeutic agents and partial or complete Fanconi syndrome. Case presentation: A series of cases of pediatric oncology patients with preserved renal function is presented in which different manifestations of proximal tubular nephrotoxicity occurred secondary to chemotherapeutic agents such as antimetabolites, alkylating agents, and anthracyclines. Discussion and conclusion: The spectrum of FS can range from a generalized or complete proximal tubulopathy to partial alterations in electrolyte reabsorption. The importance of serum and urinary monitoring should be recognized in patients with tumor lesions who will undergo chemotherapies with potentially nephrotoxic agents; the dosage, frequency and combination of chemotherapeutic agents should be taken into account, in order to prevent and treat the complications of renal toxicity including complete or partial SF.

The 475th case: renal tubular acidosis, renal failure, anemia, and lactic acidosis / 中华内科杂志

A 47-year-old female patient presented nausea and vomiting for half a year and elevated serum creatinine for 3 days. Proximal renal tubular acidosis (RTA) complicated with anemiawas confirmed after admission. Secondary factors, such as autoimmune disease, drugs, poison, monoclonal gammopathy, were excluded. Renal biopsy revealed acute interstitial nephritis. The patient was administrated with daily prednisone 50 mg, sodium bicarbonate 4 g, 3 times per day, erythropoietin 3 000 U, 2 times per week, combined with potassium, calcium, and calcitriol tablets. Serum creatinine reduced to 90 μmol/L. However nausea and vomiting deteriorated with lactic acidosis. Bone marrow biopsy indicated the diagnosis of non-Hodgkin lymphoma, therefore the patient was treated with chemotherapy. Although metabolic acidosis improved gradually after chemotherapy, severe pneumocystis carinii pneumonia developed two weeks later. The patient refused further treatment and was discharged.

Diagnosis and Exclusion of Secondary Causes of Osteoporosis

@#Osteoporosis is a major health concern and treatment of primary osteoporosis with anti-osteoporosis medications is needed to reduce fracture risk and burden. Before initiating anti-osteoporosis medications, secondary causes of osteoporosis should be considered and satisfactorily excluded. However, it can be challenging to differentiate primary osteoporosis from secondary osteoporosis, especially in patients with paucity of symptoms or who have less common clinical presentation. Hence, practical tips like Appropriate Care Guide on Osteoporosis forms the basis of initial secondary osteoporosis workup for primary care physicians. Snapshots of secondary osteoporosis are briefly discussed to facilitate “pattern recognition”.

Clinical analysis of 7 cases of Fanconi syndrome sencondary to Sjogren's syndrome / 中国实用内科杂志

OBJECTIVE: To investigate the clinical characteristics of patients with Fanconi syndrome(FS)sencondary to Sjogren's syndrome(SS). METHODS: The clinical data of 7 patients with FS secondary to SS were retrospectively analyzed. The clinical manifestations, auxiliary examinations, treatment options and curative effects were analyzed. RESULTS: Besides xerostomia and xerophthalmia, fatigue, polyuria and bone pain were found in 7 patients. Osteoporosis occurred in 6 cases and renal insufficiency in 3 cases. Immunoglobulin was increased in 7 cases, including 7 with IgG increase and 4 with IgG, IgA and IgM increase. All patients showed different degrees of ionic disorder and vitamin D deficiency. Renal glycosuria and amino acid urine were found in all 7 patients. All patients were treated with glucocorticoid combined with immunosuppressive agents. At the same time,they were treated with maintenance of acid-base and electrolyte balance and supplementation of active vitamin D. The curative effect was good. CONCLUSION: FS secondary to SS is rare, and patients are more prone to osteoporosis and renal insufficiency. Early diagnosis and treatment are essential.

Proximal renal tubular acidosis with and without Fanconi syndrome

Proximal renal tubular acidosis (RTA) is caused by a defect in bicarbonate (HCO₃⁻) reabsorption in the kidney proximal convoluted tubule. It usually manifests as normal anion-gap metabolic acidosis due to HCO₃⁻ wastage. In a normal kidney, the thick ascending limb of Henle’s loop and more distal nephron segments reclaim all of the HCO₃⁻ not absorbed by the proximal tubule. Bicarbonate wastage seen in type II RTA indicates that the proximal tubular defect is severe enough to overwhelm the capacity for HCO₃⁻ reabsorption beyond the proximal tubule. Proximal RTA can occur as an isolated syndrome or with other impairments in proximal tubular functions under the spectrum of Fanconi syndrome. Fanconi syndrome, which is characterized by a defect in proximal tubular reabsorption of glucose, amino acids, uric acid, phosphate, and HCO₃⁻, can occur due to inherited or acquired causes. Primary inherited Fanconi syndrome is caused by a mutation in the sodium-phosphate cotransporter (NaPₐ-II) in the proximal tubule. Recent studies have identified new causes of Fanconi syndrome due to mutations in the EHHADH and the HNF4A genes. Fanconi syndrome can also be one of many manifestations of various inherited systemic diseases, such as cystinosis. Many of the acquired causes of Fanconi syndrome with or without proximal RTA are drug-induced, with the list of causative agents increasing as newer drugs are introduced for clinical use, mainly in the oncology field.

Adult Idiopathic Renal Fanconi Syndrome: A Case Report

Renal Fanconi syndrome (RFS) is caused by generalized proximal tubular dysfunction and can be divided into hereditary and acquired form. Adult-onset RFS is usually associated with drug toxicity or systemic disorders, and modern molecular genetics may explain the etiology of previous idiopathic cases of RFS. Here, we report the case of a 52-year-old woman with RFS whose etiology could not be identified. She presented with features of phosphaturia, renal glucosuria, aminoaciduria, tubular proteinuria, and proximal renal tubular acidosis. Her family history was unremarkable, and previous medications were nonspecific. Her bone mineral density was compatible with osteoporosis, serum intact parathyroid hormone level was mildly elevated, and 25(OH) vitamin D level was insufficient. Her blood urea nitrogen and serum creatinine levels were 8.4 and 1.19 mg/dL, respectively (estimated glomerular filtration rate, 53 mL/min/1.73 m²). Percutaneous renal biopsy was performed but revealed no specific renal pathology, including mitochondrial morphology. No mutation was detected in EHHADH gene. We propose the possibility of involvement of other genes or molecules in this case of adult RFS.

Tenofovir-induced renal tubular dysfunction among human immunodeficiency virus patients on antiretroviral therapy in Nigeria: Prospects for early detection of presymptomatic nephrotoxicity

BACKGROUND: Tenofovir disoproxil fumarate (TDF) is relatively safe, although renal toxicity has been reported. In Nigeria, there is insufficient data on renal toxicity among patients on TDF. This study assesses TDF-associated tubular dysfunction among human immunodeficiency virus (HIV) patients at a hospital in Nigeria. METHODS: In this cohort study, 104 adult HIV patients were recruited with a simple random technique from the outpatient clinic. Biochemical indices of renal function were estimated from serum and urine at the 16th and 24th week after an initial assessment at baseline. RESULTS: There were no significant differences in baseline proteinuria or glycosuria between TDF and non-TDF groups. Mean baseline urine and serum parameters did not differ significantly between the two groups (P > 0.05). In the TDF group, all urine parameters differed significantly between baseline and 24th week values (P < 0.001). After 16 weeks, mean urine phosphate and urine uric acid increased significantly (P < 0.05) by 2.97 mg/dL and 50.9 mg/dL, respectively, in the TDF group. The rise in mean urine glucose from baseline to the 24th week was more marked in the TDF than the non-TDF group (0.25 vs. 0.07 mmol/L). Higher mean differences in urine albumin were also recorded in the TDF group from baseline to the 24th week. CONCLUSION: Indicators of tubular dysfunction were markedly higher among patients on the TDF-based treatment regimen. Biomarkers of tubular dysfunction could be useful for detecting pre-symptomatic nephrotoxicity before marked reduction of glomerular filtration rate in HIV patients on TDF.

Hypophosphatemic osteomalacia caused by adefovir dipivoxil: case report and literature review / 中华全科医师杂志

A 61-years male patients with chronic hepatitis B developed hypophosphatemic osteomalacia following long-term use of adefovir dipivoxil in our hospital.With "adefovir dipivoxil" and "osteomalacia" as the search terms,we searched Wanfang database and Chinese Biomedical bibliographic database since 2005,and retrieved 79 cases of adefovir dipivoxil-induced hypophosphatemic osteomalacia.Of the 80 cases,there were 63 males and 17 females with a mean age of (52 ± 11) years.The average duration of disease to first diagnosis made was 17 months,the average duration of adefovir dipivoxil administration to the onset of the disease was 62 months,and the average duration of hepatitis B was 11 years.The most common clinical manifestation was progressive bone pain in all parts of the body (80/80 cases);the most common laboratory finding was decreased serum phosphorus (80/80 cases),followed by abnormal urine tests (55/56 cases) including increased urinary phosphorus,urinary protein and positive urinary occult blood.The X-ray,CT and MRI showed different degrees of decreased bone density,osteoporosis,and bone fracture in severe patients (76/77 cases).It is suggested that clinicians should pay attention to the renal damage during the treatment of adefovir dipivoxil,and the renal function,electrolyte and bone density should be monitored regularly.

Adefovir-induced Fanconi syndrome associated with osteomalacia

Fanconi syndrome is a dysfunction of the proximal renal tubules that results in impaired reabsorption and increased urinary loss of phosphate and other solutes. The pathophysiology of drug-induced Fanconi syndrome is unclear. Here we report the case of a 36-year-old woman who presented with pain in multiple bones and proteinuria. She had a 7-year history of taking adefovir at 10 mg/day for chronic hepatitis B. Three years previously she had received surgery for a nontraumatic right femur neck fracture, after which she continued to complain of pain in multiple bones, and proteinuria, glycosuria, and phosphaturia were noted. The findings of a light-microscope examination of a renal biopsy sample were normal, but mitochondrial damage of the proximal tubules was evident in electron microscopy. Western blot analysis revealed that the level of serum fibroblast growth factor 23 (FGF23) was lower than in normal controls. After 2 months of treatment, hypophosphatemia and proximal tubular dysfunction were reversed, and serum FGF23 had normalized. This case suggests that direct mitochondrial damage in proximal tubules can cause drug-induced Fanconi syndrome associated with osteomalacia.

Small cell lung cancer associated with multiple paraneoplastic syndromes / Cáncer de pulmón de células pequeñas asociado a múltiples síndromes paraneoplásicos

Abstracts We report the case of a patient presenting with multiple severe electrolyte disturbances who was subsequently found to have small cell lung cancer. Upon further evaluation, she demonstrated three distinct paraneoplastic processes, including the syndrome of inappropriate antidiuretic hormone, Fanconi syndrome, and an inappropriate elevation in fibroblast growth factor-23 (FGF23). The patient underwent one round of chemotherapy, but she was found to have progressive disease. After 36 days of hospitalization, the patient made the decision to enter hospice care and later she expired.

Resumen Se reporta el caso de una paciente que ingresó al hospital para evaluación de múltiples trastornos electrolíticos y, posteriormente, se le hizo el diagnóstico de cáncer de pulmón de células pequeñas. Tras la evaluación médica, se detectaron tres síndromes paraneoplásicos: síndrome de secreción inadecuada de hormona antidiurética, síndrome de Fanconi y elevación inapropiada del factor 23 de crecimiento de fibroblastos. Se le administró quimioterapia sin éxito, por lo cual se decidió darle tratamiento paliativo y, un tiempo después, falleció.

Analysis of clinical and pathological manifestations of light chain proximal tubulopathy / 中华肾脏病杂志

Objective To investigate the clinical and pathological characteristics of light chain proximal tubulopathy (LCPT).Methods Nine patients with LCPT diagnosed by renal biopsy in Peking University First Hospital from January 1,2011 to September 30,2016 were enrolled,and their clinical findings and pathological features were reviewed.Immunofluorescence (IF) of light chains (κ,λ) on paraffin sections after protease digestion and immunogold labeling of light chains (κ,λ) on ultrathin sections were performed in some cases.Results The main clinical manifestation of the nine patients was proteinuria of small molecules,with acute or chronic renal insufficiency,and six of them led to partial or complete Fanconi syndrome (FS).The hematologic diseases included 3 cases of multiple myeloma and 6 cases of monoclonal gammopathy of renal significance (MGRS).Pathological examination of renal biopsy showed two types:crystalline and noncrystalline LCPT.Seven cases of crystalline LCPT were stained for κ light chain,the proximal tubular epithelial cytoplasm exhibited fine granular vacuolation,with needle-shaped crystals and clear clefts by light microscopy,the intracytoplasmic inclusions of various shapes including rhomboidal,rectangular and rod-shaped crystals were identified by electron microscopy.Two cases of noncrystalline LCPT were stained for λ light chain,the prominent argyrophilic granules in cytoplasm of proximal tubular epithelia were observed by light microscopy,and intracytoplasmic large and irregular shaped phagolysosomes were found by electron microscopy,cast nephropathy were coexisted in these 2 cases,the additional light chain deposition disease were confirmed in one of them by electron microscopy and IF.All cases had monotypic staining of light chains in cytoplasm of proximal tubules by IF on frozen tissue and paraffin sections after protease digestion,with the latter method being more sensitive than the routine IF.The immunogold labeling showed specific monotypic labeling of κ and λ light chain on intracytoplasmic crystals and phagolysosomes respectively by immunoelectron microscopy.Conclusions LCPT is a rarely reported entity that manifested as acquired Fanconi syndrome and dysfunction of proximal tubules clinically.Pathologically it is divided into two types:crystalline and noncrystalline LCPT,with more prevalent of κ light chain related crystalline type,noncrystalline LCPT is mostly λ type,and is easily coexisted with cast nephropathy.The IF and immunoelectron microscopy of light chains(κ,λ) and ultrastructural examination by electron microscopy are important methods for the diagnosis of LCPT.

Síndrome de fanconi induzida pelo uso de tenofovir em pessoa coinfectada HIV-hepatite B multirresistente / Fanconi Syndrome induced by the use of Tenofovir in co-infected personHIV-multiresistant Hepatitis B virus

INTRODUÇÃO: A coinfecção vírus da Hepatite B-vírus da imunodeficiência humana (HIV-HBV) é comum e o Tenofovir (TDF) é droga de eleição porque age contra os dois vírus ao mesmo tempo. Porém, em cerca de 1% dos casos pode induzir Síndrome de Fanconi (SF), levando à insuficiência renal. RELATO DE CASO: Em um homem coinfectado HIV-HBV, com a replicação do HIV controlada, o vírus da Hepatite B foi resistente a todos os fármacos disponíveis, exceto ao TDF. Vinte e dois meses após tratamento antirretroviral composto com esse medicamento, o qual controlou a replicação dos dois vírus ao mesmo tempo, desenvolveu insuficiência renal com perda de solutos reabsorvíveis em túbulo contornado proximal, diagnosticada como SF induzida por TDF. Diante do dilema de suspender o TDF para preservar o rim e permitir a replicação do HBV, ou manter o TDF para preservar o fígado e aceitar a degeneração renal, optou-se por balancear o tratamento segundo o melhor equilíbrio possível entre a replicação do HBV e a preservação do rim, ajustando-se a posologia dos medicamentos de acordo com os indicadores clínicos e laboratoriais do risco hepático e do funcionamento renal. CONCLUSÃO: A única possibilidade terapêutica disponível atualmente para pessoas coinfectadas HIV-HBV multirresistente que desenvolvem insuficiência renal por TDF consiste no ajuste da dose do TDF segundo o clearance de creatinina, no tratamento sintomático, na reposição de perdas urinárias com repercussão metabólica e no monitoramento clínico e laboratorial da infecção pelo HIV, da Hepatite B, da insuficiência renal e da remodelação óssea.

INTRODUCTION: HIV-HBV coinfection is common and Tenofovir (TDF) is the drug of choice because it acts against both viruses at the same time. However, about 1% of cases can induce Fanconi Syndrome, leading to kidney failure. CASE REPORT: On an HIV-HBV co-infected man, with controlled HIV replication, Hepatitis B virus was resistant to all available drugs, except TDF. Twenty-two months after antiretroviral treatment compound with that drug, which controlled both viruses? replication at the same time, he developed renal insufficiency with loss of absorbable solutes at proximal convoluted tubule, diagnosed as Fanconi Syndrome induced by TDF. Facing the dilemma of suspending the TDF for preserving the kidney and to allow the replication of the HBV, or to keep the TDF for preserving the liver and to accept the renal degeneration, we chose to balance the treatment according to the best possible equilibrium between HBV replication and kidney preservation, adjusting the posology of medications according to clinical and laboratorial indicators of liver risk and renal function. CONCLUSION: The only therapeutic option currently available to coinfected people by HIV-HBV who develop renal failure by the TDF consists on adjustment of the dose of the TDF according creatinine clearance, symptomatic treatment, replacement ofurinary losses which have metabolic impact, and clinical and laboratory monitoring of the HIV infection, Hepatitis B, Renal insufficiency and Bone remodeling.

A Case of Tenofovir-associated Fanconi Syndrome in Patient with Chronic Hepatitis B / 대한소화기학회지

Tenofovir disoproxil fumarate (TDF) is one of the most widely used treatment options for human immunodeficiency virus (HIV) and HBV infections. Despite its efficacy and safety, some cases of nephrotoxicity have been reported in the treatment of HIV patients. Even more recently, very few cases of Fanconi syndrome associated with tenofovir therapy in HBV monoinfection have been reported. Herein, we report a case of a 47-year-old male with an HBV monoinfection, who developed Fanconi syndrome and a secondary osteomalacia with multiple bone pain. After TDF withdrawal and supplementation of calcitriol, his renal function was reverted. Although the overall risk of TDF-associated nephrotoxicity is very low, both glomerular and tubular function should be monitored in patients undergoing TDF treatment.

Pathologic Femoral Neck Fracture Due to Fanconi Syndrome Induced by Adefovir Dipivoxil Therapy for Hepatitis B

In Fanconi syndrome, hypophosphatemic osteomalacia is caused by proximal renal tubule dysfunction which leads to impaired reabsorption of amino acids, glucose, urate, and phosphate. We present a rare case of a 43-year-old Korean male who was found to have insufficiency stress fracture of the femoral neck secondary to osteomalacia due to Fanconi syndrome. He had been receiving low-dose adefovir dipivoxil (ADV, 10 mg/day) for the treatment of chronic hepatitis B virus infection for 7 years and he subsequently developed severe hypophosphatemia and proximal renal tubule dysfunction. The incomplete femoral neck fracture was fixed with multiple cannulated screws to prevent further displacement of the initial fracture. After cessation of ADV and correction of hypophosphatemia with oral phosphorus supplementation, the patient's clinical symptoms, such as bone pain, muscle weakness, and laboratory findings improved.

Pathologic Femoral Neck Fracture Due to Fanconi Syndrome Induced by Adefovir Dipivoxil Therapy for Hepatitis B

In Fanconi syndrome, hypophosphatemic osteomalacia is caused by proximal renal tubule dysfunction which leads to impaired reabsorption of amino acids, glucose, urate, and phosphate. We present a rare case of a 43-year-old Korean male who was found to have insufficiency stress fracture of the femoral neck secondary to osteomalacia due to Fanconi syndrome. He had been receiving low-dose adefovir dipivoxil (ADV, 10 mg/day) for the treatment of chronic hepatitis B virus infection for 7 years and he subsequently developed severe hypophosphatemia and proximal renal tubule dysfunction. The incomplete femoral neck fracture was fixed with multiple cannulated screws to prevent further displacement of the initial fracture. After cessation of ADV and correction of hypophosphatemia with oral phosphorus supplementation, the patient's clinical symptoms, such as bone pain, muscle weakness, and laboratory findings improved.

Crystalline podocytopathy and tubulopathy without overt glomerular proteinuria in a patient with multiple myeloma

Crystalline nephropathy is a rare yet well-known condition associated with multiple myeloma and other light chain–secreting disorders. Paraproteins that are resistant to proteolysis crystallize within proximal tubular cells and cause light-chain proximal tubulopathy, which presents clinically as Fanconi syndrome. Podocytes are rarely affected, and the crystalline inclusions within podocytes are typically precipitated, yielding significant glomerular proteinuria. Here we report a case of extensive crystalline inclusions primarily within podocytes and proximal tubules that presented only with Fanconi syndrome and renal insufficiency. Despite the presence of extensive crystalline inclusions in podocytes and diffuse foot process effacement, the patient had no clinical evidence suggestive of podocyte injury.

Fanconi Syndrome Associated with Long-term Adefovir and Subsequent Tenofovir Therapy for Chronic Hepatitis B Infection / 대한내과학회지

Adefovir dipivoxil (ADV) and tenofovir disoproxil fumarate (TDF) are nucleotide analogues used to treat chronic hepatitis B (CHB) infection. Nephrotoxicity associated with the use of these medications causes Fanconi syndrome, a rare condition involving generalized dysfunction of the proximal renal tubule causing impaired reabsorption of glucose, uric acid, and phosphate. Fanconi syndrome has been previously reported in patients with human immunodeficiency virus (HIV) or HIV-CHB coinfection treated with other antiretroviral therapies. However, it is rarely reported in patients with CHB monoinfection. We observed a case of Fanconi syndrome in a 61-year-old woman with CHB monoinfection and a history of long-term ADV therapy (42 months), followed by TDF treatment for 9 months. She presented with ankle pain and a tingling sensation in both lower extremities. Laboratory tests revealed hypokalemia, hypocalcemia, hypophosphatemia, hypouricemia, proteinuria, and glycosuria. This case illustrates the importance of recognizing Fanconi syndrome associated with nucleotide analogue treatment and the need to carefully observe symptoms and monitor renal function in these patients.

Aspectos clínicos, fisiopatológicos e genéticos das tubulopatias hereditárias na infância / Clinical, pathophysiological and genetic aspects of inherited tubular disorders in childhood

ResumoNesta revisão, descrevemos a função tubular de cada segmento do néfron seguida das descrições das principais alterações moleculares que possam ocorrer nos transportadores expressos nestes locais. Assim, o conhecimento das modificações na função tubular renal permite o entendimento e o reconhecimento clínico das doenças tubulares renais que podem causar a morte fetal, neonatal ou infantil. Além disso, as crianças com tubulopatias podem evoluir para doença renal crônica terminal numa fase precoce da vida e também podem apresentar distúrbios do crescimento e do desenvolvimento acompanhados ou não de alterações neurológicas. Então, nós utilizamos o unitermo "inherited tubular disorders" a fim de selecionar na base de dados do PubMed os estudos publicados desde 2006. Esperamos que a leitura desta revisão auxilie no rápido diagnóstico dos pacientes com tubulopatias, o que poderá permitir o tratamento especializado e a possível melhora do prognóstico e qualidade de vida destes indivíduos.

AbstractIn this review, we described the tubular function of each nephron segment followed by the most important changes that may occur in the transporters expressed therein. Thus, knowledge of the changes in renal tubular function allows the understanding and recognition of renal tubular diseases that can cause stillbirth or death in newborns or in childhood. Moreover, children with tubular disorders may progress to chronic renal disease at an early stage of life and they may also show disturbances of growth and development associate or not with neurological dysfunction. Therefore, we used the keyword "inherited tubular disorders" to select the children studies that have been published in the PubMed database since 2006. We hope that this review may help physicians to perform an early diagnosis in patients with tubular disorders allowing a specialized treatment and an improvement in their prognosis and quality of life.