Adult fanconi syndrome in primary amyloidosis with lambda light-chain proteinuria.

Rikitake, Osamu; Sakemi, Takanobu; Yoshikawa, Yutaka; Nagano, Yoshiro; Watanabe, Teruo

doi:10.2169/internalmedicine1962.28.523

Cited by 20 publications

(12 citation statements)

References 13 publications

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“…In the light of these studies, kappa light chain has been implicated as the key factor causing Fanconi syndrome in these patients [28, 130, 131]. Rikitake et al ., however, reported lambda light chain proteinuria in a 57-year-old female who developed Fanconi syndrome and had renal amyloidosis with nephrotic syndrome for the last 5 years [132]. …”

Section: Miscellaneous Causesmentioning

confidence: 99%

Proximal renal tubular acidosis: a not so rare disorder of multiple etiologies

Haque

Ariceta

Batlle

2012

Nephrology Dialysis Transplantation

149

101

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Proximal renal tubular acidosis (RTA) (Type II RTA) is characterized by a defect in the ability to reabsorb HCO3 in the proximal tubule. This is usually manifested as bicarbonate wastage in the urine reflecting that the defect in proximal tubular transport is severe enough that the capacity for bicarbonate reabsorption in the thick ascending limb of Henle's loop and more distal nephron segments is overwhelmed. More subtle defects in proximal bicarbonate transport likely go clinically unrecognized owing to compensatory reabsorption of bicarbonate distally. Inherited proximal RTA is more commonly autosomal recessive and has been associated with mutations in the basolateral sodium-bicarbonate cotransporter (NBCe1). Mutations in this transporter lead to reduced activity and/or trafficking, thus disrupting the normal bicarbonate reabsorption process of the proximal tubules. As an isolated defect for bicarbonate transport, proximal RTA is rare and is more often associated with the Fanconi syndrome characterized by urinary wastage of solutes like phosphate, uric acid, glucose, amino acids, low-molecular-weight proteins as well as bicarbonate. A vast array of rare tubular disorders may cause proximal RTA but most commonly it is induced by drugs. With the exception of carbonic anhydrase inhibitors which cause isolated proximal RTA, drug-induced proximal RTA is associated with Fanconi syndrome. Drugs that have been recently recognized to cause severe proximal RTA with Fanconi syndrome include ifosfamide, valproic acid and various antiretrovirals such as Tenofovir particularly when given to human immunodeficiency virus patients receiving concomitantly protease inhibitors such as ritonavir or reverse transcriptase inhibitors such as didanosine.

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Section: Miscellaneous Causesmentioning

confidence: 99%

Proximal renal tubular acidosis: a not so rare disorder of multiple etiologies

Haque

Ariceta

Batlle

2012

Nephrology Dialysis Transplantation

149

101

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“…The amyloid deposits in that patient were confined almost exclusively to the tissue surrounding the medullary collecting ducts (26). Another extraglomerular manifestation of renal amyloidosis is Fanconi's syndrome, reflecting injury to proximal tubular cells by filtered light chains (28). Amyloid deposits that are isolated to the renal medulla is a feature in most patients with apoAI familial amyloidosis (29 -31) and has been described in some individuals with AA amyloidosis (32).…”

Section: Clinicopathologic Correlatesmentioning

confidence: 99%

Amyloidosis-Associated Kidney Disease

Dember

2006

Journal of the American Society of Nephrology

355

284

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The amyloidoses are a group of disorders in which soluble proteins aggregate and deposit extracellularly in tissues as insoluble fibrils, causing progressive organ dysfunction. The kidney is one of the most frequent sites of amyloid deposition in AL, AA, and several of the hereditary amyloidoses. Amyloid fibril formation begins with the misfolding of an amyloidogenic precursor protein. The misfolded variants self-aggregate in a highly ordered manner, generating protofilaments that interact to form fibrils. The fibrils have a characteristic appearance by electron microscopy and generate birefringence under polarized light when stained with Congo red dye. Advances in elucidating the mechanisms of amyloid fibril formation, tissue deposition, and tissue injury have led to new and more aggressive treatment approaches for these disorders. This article reviews the pathogenesis, diagnosis, clinical manifestations, and treatment of the amyloidoses, focusing heavily on the renal aspects of each of these areas.

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“…Amyloid renal disease may manifest as nephrotic syndrome and/or renal failure 3. Another uncommon manifestation is acquired Fanconi syndrome due to deposition of amyloid in the proximal convoluting tubules 9. This might explain the presence of glycosuria in spite of a normal blood glucose level.…”

Section: Discussionmentioning

confidence: 99%

A young patient with recurrent respiratory tract infection and anasarca

et al. 2013

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A young man with a history of recurrent respiratory tract infections for the past 8 years presented with generalised anasarca. He was found to have advanced renal disease (stage 4) and a profound proteinuria of 82.9 g/day. Further workup revealed the presence of advanced bronchiectatic changes in the lungs. Rectal biopsy showed the characteristic pattern of amyloid deposition. A diagnosis of systemic amyloidosis secondary to bronchiectasis was made. To the best of our knowledge no other cases of bronchiectasis-associated renal amyloid disease with such marked proteinuria have been reported in the literature. Our patient had a relatively short duration between the onset of his symptoms related to underlying bronchiectasis and his clinical presentation of renal amyloidosis. He had an aggressive course of disease and unfortunately died at a very young age.

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Adult fanconi syndrome in primary amyloidosis with lambda light-chain proteinuria.

Cited by 20 publications

References 13 publications

Proximal renal tubular acidosis: a not so rare disorder of multiple etiologies

Proximal renal tubular acidosis: a not so rare disorder of multiple etiologies

Amyloidosis-Associated Kidney Disease

A young patient with recurrent respiratory tract infection and anasarca

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