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Acquired Fanconi Syndrome


Presentation

  • We present a case of acquired Fanconi syndrome in a patient with chronic hepatitis B who had been treated with ADV for 4 years. She presented with progressive muscle weakness and generalized bone pain.[ncbi.nlm.nih.gov]
  • A 77-year-old female with metastatic colon cancer presented with vomiting and diarrhea.[ncbi.nlm.nih.gov]
  • We report a rare case with acquired Fanconi syndrome caused by mixed Chinese herbs, initially presenting as waddling gait and lower limb muscle atrophy.[ncbi.nlm.nih.gov]
  • We herein present a case of multiple myeloma with Fanconi syndrome and acute kidney injury due to light chain proximal tubulopathy with light chain cast nephropathy.[ncbi.nlm.nih.gov]
  • In addition, they had the generalized dysfunction of the renal proximal tubules presenting decreased tubular reabsorption of phosphate (%TRP), increased fractional excretion of potassium (FEK) and uric acid (FEUA), low-molecular-weight proteinuria, panaminoaciduria[ncbi.nlm.nih.gov]
Lower Limb Muscle Atrophy
  • We report a rare case with acquired Fanconi syndrome caused by mixed Chinese herbs, initially presenting as waddling gait and lower limb muscle atrophy.[ncbi.nlm.nih.gov]
Waddling Gait
  • We report a rare case with acquired Fanconi syndrome caused by mixed Chinese herbs, initially presenting as waddling gait and lower limb muscle atrophy.[ncbi.nlm.nih.gov]

Workup

Nephrolithiasis
  • "Nephrolithiasis related to inborn metabolic diseases". Pediatric Nephrology. 25 (3): 415–24. doi : 10.1007/s00467-008-1085-6. PMC 2810370. PMID 19156444.[en.wikipedia.org]
  • Disorder of fatty acid oxidation and ketogenesis Disorder of purine or pyrimidine metabolism Disorder of urea cycle metabolism and ammonia detoxification Distal renal tubular acidosis Distal renal tubular acidosis with anemia Dominant hypophosphatemia with nephrolithiasis[se-atlas.de]
Ground Glass Appearance
  • A chest CT scan showed a ground-glass appearance in the left upper and lower lobes. Because of the positive urinary antigen test, he was diagnosed as Legionella pneumonia.[bmcnephrol.biomedcentral.com]
Hypouricemia
  • The laboratory findings at admission showed hypophosphatemia, hypokalemia, hypouricemia and/or hyponatremia.[ncbi.nlm.nih.gov]
  • Laboratory test results showed hypokalemia, hypocalcemia, hypophosphatemia, and hypouricemia. The patient had not been started on any new medications other than chemotherapy for over 1 year.[ncbi.nlm.nih.gov]
  • Signs of proximal tubular dysfunction include hypophosphatemia, hypouricemia and hypokalemia due to renal leakage, associated with normoglycemic glucosuria, generalized aminoaciduria, low-molecular-weight proteinuria and proximal renal tubular acidosis[orpha.net]
  • In addition, there was an associated non-anion gap metabolic acidosis, hypophosphatemia of 0.4 mmol/l (RI: 0.8–1.6 mmol/l) and hypouricemia of 154 μmol/l (RI: 250–550 μmol/l). The fractional excretion of phosphate was raised (59%, RI: 5–20%).[endocrine-abstracts.org]
Creatinine Increased
  • Last Update: 2017-04-26 Usage Frequency: 1 Italian Aumento della creatinina ematica Proteinuria Tubulopatia renale (sindrome di Fanconi acquisita), glicosuria Insufficienza renale acutaP1 English Oesophagitis Blood creatinine increased Proteinuria Renal[mymemory.translated.net]
Legionella Pneumophila
  • pneumophila infection contributed to the pathophysiology of Fanconi syndrome.[ncbi.nlm.nih.gov]
  • In addition, it has been reported that Legionella pneumophila infection affects mitochondrial functions in mammalian cells [ 12, 13 ].[bmcnephrol.biomedcentral.com]

Treatment

  • The treatment was complicated with a severe, symptomatic hypocalcemia occurring 1 month after the injection and necessitating 4 weeks of intravenous calcium gluconate therapy.[ncbi.nlm.nih.gov]
  • Aggressive and early alkali treatment with supplementation of phosphate and Vitamin D restored the patient's metabolic and musculoskeletal abnormalities.[ncbi.nlm.nih.gov]
  • She was treated with supplementation by phosphate, alkali agents, and vitamin D, and responded well to the treatment symptomatically and biochemically. MGUS was observed without chemotherapy. Myeloma had not developed after 10 months follow-up.[ncbi.nlm.nih.gov]
  • Treatment for Legionella pneumonia with antibiotics resulted in the improvement of all serum electrolyte abnormalities and normalization of the %TRP, FEK, FEUA, low-molecular-weight proteinuria, panaminoaciduria and glycosuria, suggesting that Legionella[ncbi.nlm.nih.gov]
  • Adefovir dipivoxil (ADV) is one of the commonly used antiviral agents in the treatment of chronic hepatitis B infection. Nephrotoxicity is dose related and occurred at a daily dosage of 30 mg.[ncbi.nlm.nih.gov]

Prognosis

  • Prognosis Crystal accumulation within the bone marrow may lead to pancytopenia. Most patients die from complications of chemotherapy or of causes other than myeloma.[orpha.net]
  • Prognosis Prognosis depends on the cause of the syndrome and the severity of renal and extrarenal manifestations. Prevention Avoiding exposure to potential toxins - eg, outdated tetracyclines and aminoglycosides.[patient.info]
  • A long-term study of prognosis in monoclonal gammopathy of undetermined significance. N Engl J Med . 2002 ; 346 : 564 -569. View Abstract[bloodjournal.org]
  • Prognosis mainly depends on the extent of damage incurred prior to the onset of therapy.[emedicine.medscape.com]

Etiology

  • Etiology FS in adults may be secondary to other causes, including autoimmune disorders, drugs, or heavy metal poisoning.[orpha.net]
  • Related disorder with proximal tubular damage by toxic light chains Definitions Chronic tubulointerstitial nephropathy caused by intracytoplasmic crystalline inclusions composed of monoclonal light chains present in proximal tubular epithelial cells ETIOLOGY[basicmedicalkey.com]
  • Proximal renal tubular acidosis: a not so rare disorder of multiple etiologies. Nephrol Dial Transplant. 2012; 27 (12): 4273-87[ DOI ][ PubMed ] 5. Maldonado JE, Velosa JA, Kyle RA, Wagoner RD, Holley KE, Salassa RM. Fanconi syndrome in adults.[ijp.tums.pub]
  • Etiology Hereditary: • Idiopathic or Accompanies the following: 1. Cystinosis 2. Wilson disease 3. hereditary fructose intolerance, 4. galactosemia, 5. oculocerebrorenal syndrome (Lowe syndrome), 6. mitochondrial cytopathies, 7. tyrosinemia.[slideshare.net]
  • (Etiology) Causal factors of Fanconi Syndrome could include: One type of Fanconi Syndrome is caused by inheriting an autosomal recessive pattern.[dovemed.com]

Epidemiology

  • Minerva Urologica e Nefrologica. 2009; 61(4): 439-455 [Pubmed] 5 Renal disease in patients with HIV infection - Epidemiology, pathogenesis and management Fine DM, Perazella MA, Lucas GM, et al.[jpgmonline.com]
  • Summary Epidemiology Prevalence is unknown but around 100 cases have been described in the literature so far.[orpha.net]
  • […] reabsorbed by proximal tubule, where they are degraded In LCFS, abnormal light chain, usually kappa (VK1 subgroup), is resistant to enzymatic breakdown Nephrotoxic light chains crystallize or precipitate within lysosomes in proximal tubules CLINICAL ISSUES Epidemiology[basicmedicalkey.com]
  • Here, Díaz-García et al. review the clinical features, epidemiology and current understanding of the molecular mechanisms of deferasirox nephrotoxicity. Juan Daniel Díaz-García, Angel Gallegos-Villalobos, Liliana Gonzalez-Espinoza, Maria D.[nature.com]
  • [ 1 ] Fanconi's syndrome may be inherited or acquired and leads to aminoaciduria, glycosuria, phosphaturia, renal tubular acidosis (RTA) type 2 (proximal), hypophosphataemic rickets (children) or osteomalacia (adults), and renal glycosuria. [ 2, 3 ] Epidemiology[patient.info]
Sex distribution
Age distribution

Pathophysiology

  • […] antibiotics resulted in the improvement of all serum electrolyte abnormalities and normalization of the %TRP, FEK, FEUA, low-molecular-weight proteinuria, panaminoaciduria and glycosuria, suggesting that Legionella pneumophila infection contributed to the pathophysiology[ncbi.nlm.nih.gov]
  • […] biochemistry of nutrition 180 Nutritional disorders and their management 200 Clinical biochemistry of the gastrointestinal tract 214 Assessment of hepatic function and investigation of jaundice 231 Acute and chronic liver disease 250 Glucose metabolism and the pathophysiology[books.google.com]
  • Brenner/Rector remains the go-to resource for practicing and training nephrologists and internists who wish to master basic science, pathophysiology, and clinical best practices.[books.google.com]
  • Effectively diagnosing and treating patients is a concern because of the limited information available regarding the pathophysiology of the disease.[uspharmacist.com]

Prevention

  • We report the case of a 48-year-old man with acquired Fanconi syndrome due to IgG-kappa monoclonal gammopathy, who received a single dose of denosumab 60 mg for secondary prevention of skeletal fractures, in conjunction with oral calcium and vitamin D[ncbi.nlm.nih.gov]
  • Conversely, in patients with Sjögren’s syndrome, early investigation and treatment of renal tubular dysfunction may prevent future complications, such as osteomalacia.[link.springer.com]
  • Inherited type of Fanconi Syndrome manifests itself shortly after birth; the condition cannot be prevented Acquired forms of Fanconi Syndrome can be prevented, if one is aware of the risk factors and these are avoided What is the Prognosis of Fanconi[dovemed.com]
  • Dehydration due to polyuria: prevent by ensuring adequate fluid intake; episodes of dehydration require either oral or intravenous fluid replacement.[patient.info]
  • Prevention Fanconi's syndrome caused secondarily by the genetic diseases galactosemia, glycogen storage disease, hereditary fructose intolerance, and tyrosinemia is prevented by appropriate dietary restrictions to treat the genetic disease, starting in[medical-dictionary.thefreedictionary.com]

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