Fanconi syndrome after ifosfamide exposure case report case. Apr 28, 2004 the fanconibickel syndrome fbs, originally described in 1949, is a rare, welldefined clinical entity that is inherited in an autosomal recessive mode. He was the product of the sixth pregnancy, the first of which terminated. Case report open access denosumab improves clinical manifestations of hypophosphatemic osteomalacia by adefovirinduced fanconi syndrome. Tieder m, arie r, modai d, samuel r, weissgarten j, liberman ua. We report two cases from a family with primary fanconi syndrome. This case report details the course of such a patient over the 20 years since his diagnosis and discusses the syndromes genetic background, clinical features, putative pathophysiology, and therapeutic options, including transplantation. We report a case of gentamycininduced fanconi syndrome in a 4month old infant who presented with aminoaciduria, glucosuria, phosphaturia and compensated metabolic acidosis. An unusual case of fanconi anemia with adult onset, mosaicism in an asymptomatic sibling, and a possible molecular explanation. Deferasirox has nephrotoxic effects in the context of chronic therapy. The most important diagnostic features of this syndrome include hypophosphataemia, glycosuria and proteinuria, which are also noted in our series. Sjogrens syndrome complicated with fanconi syndrome and. We present a case series of three patients with sodium valproateinduced fanconis syndrome, with ages ranging from 5 years to 12 years. This is challenging case of ventricular tachycardia vt storm in the setting of severe electrolyte disarrangement in the backdrop of fanconi syndrome.
Fanconi syndrome is characterised by a global transport defect in the proximal tubules of the kidney. Kearnssayre syndrome is a mitochondrial myopathy that demonstrates chronic progressive ophthalmoplegia with onset before the age of 20 and pigmentary degeneration of the retina. Garcia1, telma francisco1, gilda teixeira2, maria j. The fanconibickel syndrome fbs, originally described in 1949, is a rare, welldefined clinical entity that is inherited in an autosomal recessive mode. The use of nivolumab has been linked with immune mediated acute interstitial nephritis ain. A case report andrea palermo 1, rocky strollo 1, rocco papalia 2, luca donofrio 1, ernesto maddaloni 1, silvia briganti 1, nicola napoli 1, umberto vespasiani 3, sebastiano costantino 4, paolo pozzilli 1, 5, vincenzo denaro 2, silvia manfrini 1. Case presentation we report a case of renal fanconi syndrome associated with intermittent hypoglycemic episodes, the specific cause for which remained elusive for over 30 years, despite numerous. Successful treatment with glucocorticoid for secondary fanconi syndrome caused by sarcoidosis. Fanconis syndrome and renal failure induced by tenofovir. Fanconi anemia is a heterogeneous condition that can present a variety of congenital defects but invariably results in defective haemopoiesis, which is. Multiple therapeutic interventions were undertaken, but it was largely extracorporeal membrane oxygenation ecmo and stellate ganglion blockade that abated the tachyarrhythmia burden. Pdf pfanconi anaemia is a rare and most common form of inherited aplastic anaemia. The authors present a case of a patient treated for wilms tumour with ifa who developed rickets with fanconi syndrome.
Ifosfamide ifa is a powerful chemotherapeutic drug that is active against a variety of paediatric malignancies. Elevated serum 1,25dihydroxyvitamin d concentrations in siblings with primary fanconis syndrome. Although significant nephrotoxicity has been rarely reported, periodic renal monitoring is a reasonable recommendation in hivuninfected individuals receiving tdfftc for prep and other conditions. This case and others document that, albeit uncommon, a reversible tdfftcassociated fanconi syndrome may nonetheless occur during prep. Severe hypophosphatemic osteomalacia secondary to fanconi. In this study, we report a unique case of fanconi syndrome with development of a relatively rare acute leukemia, a condition that has not been reported before. Perrone d, afridi f, kingmorris k, komarla a, kar p. A case report laith alrabadi, mbbs, 1, rivka ayalon, md, 1 ramon g. Rare diseases may elude diagnosis due to unfamiliarity of the treating physicians with the specific disorder. Fanconi anemia a rare case report annals of clinical case. We report the case of an 18yearold romanian man with short stature, external ophthalmoplegia, palpebral ptosis, myopathy, sensorineural hearing impairment, cerebellar ataxia, cardiac conduction. It is associated with systemic features in many cases 1, and its renallimited form is called renal fanconi syndrome rfs. A 54yearold man with hiv infection came to our institution to. Furthermore, also added is that clinical fractures representing an underlying osteopaenia may provide an.
A 54yearold man with hiv infection came to our institution to establish an ongoing source of care. A case of fanconi syndrome due to a deferasirox overdose and. We report a case of renal fanconi syndrome associated with intermittent. We present the case of a child with fanconi anemia.
Proximal renal tubular acidosis fanconi syndrome induced by apremilast. Plain radiograph after the second tha showed the implants in bilateral hips. It causes important nutrients to be excreted by the body rather than reabsorbed into the bloodstream, so those with fanconi. It is a rare, genetically inherited autosomal recessive disorder. Tenofovir disoproxil fumarateassociated fanconi syndrome. We assume that those situations should be first ruled out in case of biological criteria for fanconi syndrome. Fanconi syndrome fs is a generalized transport defect in. Ifosfamide induced fanconi syndrome bmj case reports. A99 nkf 2016 spring clinical meetings a case report pregnancy in a patient with primary membranous nephropathy and circulating antipla 2r antibodies. Two case studies from a family with primary fanconi syndrome. Get a printable copy pdf file of the complete article 1. We report a case of fanconi syndrome and proximal renal tubular acidosis that was associated with this medication. Fanconi syndrome fs is a generalized transport defect in the proximal renal tubule leading to renal losses of phosphate, calcium, uric acid, bicarbonates as well as glucose, amino acids and other organic compounds. Jul 11, 2017 we report a case of renal fanconi syndrome associated with intermittent hypoglycemic episodes, the specific cause for which remained elusive for over 30 years, despite numerous investigations, including three kidney and one liver biopsy.
This case report highlights an important differential diagnosis that may be included under the umbrella of wissler fanconi syndrome subsepsis hyperergica. Idiopathic fanconi syndrome with progressive renal failure. Fanconi syndrome is caused by generalized proximal tubular dysfunction and manifested by phosphaturia, renal glucosuria, aminoaciduria, tubular proteinuria, and proximal renal tubular acidosis rta. The spectrum of tubular dysfunction varies in different patients, ranging from a generalised proximal tubulopathy to partial reabsorption defects in sodium, potassium, glucose, amino acids, bicarbonate and phosphorus. Case report fanconi bickel syndrome two cases report norberto sotelo. Despite the rarity of this syndrome, the diagnosis was easily made due to the presence of the classic triad. We report the first case series of fs in eight patients with lymphoma and discuss the putative mechanisms lead. Apremilast is a recently developed phosphodiesterase 4inhibitory medication approved for use to treat psoriasis and psoriatic arthritis. We report a case of fanconi syndrome after longterm therapy with vpa. On arrival, laboratory test results were significant for hypokalemia, hyperchloremic metabolic acidosis, low uric acid concentration, positive urine. Case presentation we report a case of renal fanconi syndrome associated with intermittent hypoglycemic episodes, the specific cause for which remained elusive for over 30. We present a case series of three patients with sodium valproateinduced fanconi s syndrome, with ages ranging from 5 years to 12 years. Case report our patient is a 71yearold male with a medical history of hypertension, hyperlipidemia, coronary artery disease status. Case report a 37yearold woman was given a diagnosis of hypertrophic cardiomyopathy in 2012.
We report a case of renal fanconi syndrome associated with intermittent hypoglycemic episodes, the specific cause for which remained elusive for over 30 years. We present a case of canagliflozin induced fanconis syndrome. It causes important nutrients to be excreted by the body rather than. A 41yearold female with typei diabetes on an insulin infusion pump with average hba1c of 6. Fanconi syndrome and tenofovir alafenamide annals of. However, renal toxicities such as haemorrhagic cystitis and fanconi syndrome are major hazards that hinder its use in clinical practice. A 39yearold white woman with a history of frequent bone fractures developed. In this study, we report a unique case of fanconi syndrome with development of a relatively rare acute leukemia, a. May 29, 2017 deferasirox has nephrotoxic effects in the context of chronic therapy. Immune checkpoint inhibitors cpis represent novel new cancer immunotherapy agents. Feb 09, 2018 rheault mn, bechtel h, neglia jp, kashtan ce. Very infrequently a patient with idiopathic fanconi syndrome will progress to chronic renal failure.
Reports of tdfrelated renal toxicities in adults followed in 2002 1 with the first paediatric case being reported in 2006. A case of fanconi syndrome as a complication of treatment. Jun 29, 2018 fanconi syndrome is a disorder with the proximal tubules of the kidney. Melas syndrome and kidney disease without fanconi syndrome. We describe an unusual case of melas mutation, cardiomyopathy, and chronic kidney disease in the absence of fanconi syndrome, proteinuria, and hematuria. Renal tubular defects are usually found, but full proximal tubular abnormalities have rarely been described. The case was an 8yearold boy with familial occurrence of fanconi syndrome, presenting with pallor, asthenia, recurrent infections, growth failure, and a variety of biochemical and. Tubulointerstitial nephritis and uveitis tinu syndrome is a rare oculorenal inflammatory disease. We present the case of a patients with recurrent hepatocellular carcinoma who developed severe fanconi syndrome, as evidenced by hyperchloremic metabolic acidosis, hypokalemia. This case report illustrates proximal tubular dysfunction fanconi syndrome due to an acute deferasirox overdose.
Severe hypophosphatemic osteomalacia secondary to fanconi syndrome due to adefovir. Refractory ventricular tachycardia storm associated with. Fanconi syndrome due to tenofovir disoproxil fumarate. We report the case of a patient with fanconi syndrome and hyperinsulinemic hypoglycemia caused by the mutation of hnf4a presenting with additional auditory phenotypes. Fa was first described in 1927 by the swiss pediatrician, guido fanconi. Deferasirox levels were obtained in the context of three rounds of plasmapheresis. Features of wissler fanconi syndrome can be found in a differential diagnosis that includes true sepsis, acute rheumatic fever, and adult stills disease. Pdf renal fanconi syndrome rfs is caused by generalized proximal tubular dysfunction and can be divided into hereditary and acquired form find, read. Our patient was started on treatment with apremilast 2 weeks before his admission.
His hiv had been well controlled with antiretroviral regimens containing tdf for. The most recent kidney biopsy showed dysmorphic mitochondria, suggesting a mitochondrial disorder. Fanconi syndrome after ifosfamide exposure case report. Case report bilateral femoral head necrosis and pathological. Yet, advances in genetics have tremendously enhanced our ability to establish specific and sometimes surprising diagnoses. Some issues in bahr and colleagues 1 case report on a patient with fanconi syndrome caused by tenofovir alafenamide taf warrant further investigation. Bilineal acute leukemia associated with fanconi syndrome. Omura d, hagiya h, hanayama y, hasegawa k, morinaga h, kikuta a, et al. Adultonset rfs is usually associated with drug toxicity or systemic disorders, and modern molecular genetics may explain the etiology of previous idiopathic cases of rfs.
A case of fanconi syndrome in a patient taking canagliflozin. Proximal renal tubular acidosis fanconi syndrome induced by. Fanconi syndrome is a rare rheumatic syndrome that was first described during the 1940s in europe. To alert clinicians to the possibility that taf can cause fanconi syndrome. A case of fanconi syndrome due to a deferasirox overdose. Wisslerfanconi syndrome is a rare rheumatic syndrome that was first described during the 1940s in europe. We report the case of a 55year old woman, native from morocco, presenting with bilateral, nongranulomatous, anterior uveitis, mild renal insufficiency, leucocyturia and glycosuria. Proximal renal tubular acidosis fanconi syndrome induced.
However, we report a case strongly suggestive of just such an association, with 2 separate instances of symptoms resolving on discontinuation of treatment with the drug. A case of tenofovirinduced fanconi syndrome in a patient receiving antiretroviral therapy for hiv infection, with resolution of the related electrolyte abnormalities upon switch from tenofovir disoproxil fumarate to tenofovir alafenamide fumarate, is reported. Sjogrens syndrome is a chronic inflammatory autoimmune disease, characterized by lymphocytic infiltration of exocrine glands, which is often underdiagnosed but affects between 1 and 3% of the general population. We present the case of a patients with recurrent hepatocellular carcinoma who developed severe fanconi syndrome, as evidenced by hyperchloremic metabolic acidosis, hypokalemia, hypophosphatemia, glucosuria, aminoaciduria, 8 months after initiating treatment with nivolumab, without any evidence of acute renal insufficiency. Fanconi anemia case report of rare aplastic anemia at child. Further workup showed hypophosphatemia and hyperphosphaturia, hypouricemia and hyperuricosuria, and hyper aminoaciduria, consistent with fanconi syndrome. In this article is presented, what we believe to be, the first case report of fanconi syndrome in the sudanese medical literature. Melas syndrome and kidney disease without fanconi syndrome or. Reversible fanconi syndrome in a pediatric patient on deferasirox. Case report medical history a 8yearold girl with fanconibickel. An 8yearold severely disabled and developmentally retarded boy with epilepsy was treated with vpa over a period of 7 years. Case presentation a 55yearold previously healthy woman, without family history, native from morocco, living in belgium for almost two decades, presented at the ophthalmologist consultation with sudden. Glezerman1, tarun kewalramani2 and kenar jhaveri3 1 renal service, 2 hematology service, memorial sloan kettering cancer center and 3 renal division, weill medical college of cornell university, new york, ny, usa. The authors state that theirs is the fourth report of kidney toxicity due to taf and list 3 previous cases.
Renal fanconi syndrome rfs is caused by generalized proximal tubular dysfunction and can be divided into hereditary and acquired form. In fact, dental findings of fanconis syndrome have been described as a similar to these in hypophosphatemic vitamin dresistant rickets. We report the case of an 18yearold romanian man with short stature, external ophthalmoplegia, palpebral ptosis, myopathy, sensorineural hearing impairment, cerebellar ataxia, cardiac conduction defect, diabetes. Plain radiograph after the first tha showed the implant in left hip. Although skin and bone morphological abnormalities were present from birth, diagnosis was suspected at 11 years old. The renal fanconi syndrome which results from renal tubular dysfunction can be either associated with various inbom errors of metabolism or acquired from various etiology. Furthermore, also added is that clinical fractures representing an underlying osteopaenia may provide.
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