Clinical Images: Tenofovir-Induced Fanconi Syndrome: An Uncommon Cause of Hypophosphatemic Osteomalacia.
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ABSTRACT:
SUBMITTER: Sahoo RR
PROVIDER: S-EPMC9190220 | biostudies-literature | 2022 Jun
REPOSITORIES: biostudies-literature
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Clinical Images: Tenofovir-Induced Fanconi Syndrome: An Uncommon Cause of Hypophosphatemic Osteomalacia.
Sahoo Rasmi Ranjan RR Wakhlu Anupam A
ACR open rheumatology 20220207 6
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Project description:Background: Pain in patients with hemophilia is common and usually a result of arthropathy. Clinicians should, however, consider a wide range of etiologies for pain in patients with hemophilia including infection, osteoporotic fractures, arthritis, and osteomalacia. Aims: This case demonstrates an instance of poorly localized back and hip pain, severe enough to prevent ambulation, caused by hypophosphatemic osteomalacia due to tenofovir treatment for blood transfusion acquired Human Immunodeficiency Virus (HIV) in a patient with hemophilia A. Methods: Case Report. Results: With termination of tenofovir treatment, this patient returned to baseline function. Conclusion: This report serves to emphasize the need for accurate diagnosis of pain in hemophilia patients, especially among the aging demographic of people with hemophilia in which there is a significant likelihood of an HIV infection and among patients who may be on Pre-exposure Prophylaxis (PrEP) or clinical trials involving tenofovir.
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Project description:Iron deficiency anemia is treated by iron supplementation. Increasing evidence has shown that the carbohydrate components in iron infusions can cause hypophosphatemia and subsequent osteomalacia due to excess intact fibroblast growth factor 23 (iFGF23). We here undertook an in-depth characterization of 13 patients with iron infusion-induced osteomalacia (IIIO). Patients were characterized (monocentric institutional practice) by means of laboratory, bone density, HR-pQCT, and virtual osteoid volume estimation. We additionally report a patient who was treated with burosumab because iron infusions had to be continued despite osteomalacia. All 13 patients received ferric carboxymaltose (FCM) infusions and presented with low phosphate levels. Stopping the FCM infusions and supportive treatment by substitution of phosphate, calcium, native, and/or active Vitamin D was the chosen therapeutic approach. Pain, mobility, and biochemical data, such as serum phosphate levels, BMD, bone microstructure, and virtual osteoid volume, were the main outcome measures. Our results indicate biochemical normalization (eg, phosphate levels pre: 0.50 mmol/L ± 0.23 mmol/L, post: 0.93 mmol/L ± 0.32 mmol/L, p<.001) after stopping the FCM infusion and establishing supportive treatment. Additionally, pain levels on the visual analog scale (VAS) decreased (VASpre 7.31 ± 1.22, VASpost 2.73 ± 1.27, p<.0001) and areal BMD (expressed by T-score) improved significantly (T-scorepre: -1.85 ± 1.84, T-scorepost: -0.91 ± 2.13, p<.05). One patient requiring ongoing FCM infusions experienced significant additional benefits from burosumab treatment. In conclusion, our results highlight the importance of monitoring phosphate in patients treated with FCM infusions. Stopping FCM infusions is effective in addressing the excess of iFGF23 and thereby phosphate wasting. Supportive therapy enables quick recovery of the musculoskeletal system and improves pain levels in these patients.
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Project description:Fanconi-Bickel Syndrome (FBS) is a rare variety of glycogen storage disease (GSD). Characterized by massive hepatomegaly due to glycogen accumulation, severe hypophosphatemic rickets, and marked growth retardation due to proximal renal tubular dysfunction. We report a young boy presented as hypophosphatemic rickets with hepatomegaly and subsequently diagnosed as FBS.
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Project description:Fanconi-Bickel syndrome is a rare inherited disorder characterized by hepatorenal glycogen accumulation, renal tubular dysfunction, growth failure, and impaired utilization of glucose and galactose. We report the first two children with Fanconi-Bickel syndrome from Pakistan who presented with classical features of Fanconi-Bickel Syndrome. Both patients were found to be homozygous for a single nucleotide deletion in the SLC2A2 gene defined as c.339delC. This mutation was previously described in an Arab patient who was initially presented as permanent neonatal diabetes mellitus before developing classical features of Fanconi-Bickel syndrome.
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Project description:ContextTumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome caused primarily by benign mesenchymal tumors. It has been associated with malignancies in rare cases. High serum levels of fibroblast growth factor (FGF) 23 reported in a group of patients with ovarian cancer had normal serum phosphate levels. There had been no ovarian cancer-related hypophosphatemic osteomalacia in a search of the literature.ObjectiveWe investigated a 57-year-old woman with progressive low back pain.Design and interventionClinical, biochemical, and radiological assessments were performed. The patient's serum phosphate and FGF23 levels were evaluated at baseline and after treatment for ovarian cancer.ResultsThe patient presented with progressive low back pain and weight loss during the previous 6 months. Imaging studies revealed low bone mineral density and multiple suspicious spinal metastatic lesions. Laboratory examination showed hypophosphatemia, hyperphosphaturia, normocalcemia, an elevated serum alkaline phosphatase level, and an elevated serum FGF23 level. Because TIO was suspected, a tumor survey was performed, and ovarian carcinoma with multiple metastasis was detected. After surgery and chemotherapy treatments for ovarian cancer, the serum phosphate and FGF23 levels returned to normal, and the low back pain improved.ConclusionsTo our knowledge, this is the first case of ovarian cancer-related hypophosphatemic osteomalacia reported in the literature. TIO should be considered in patients with ovarian cancer presenting with weakness, bone pain, and fractures. Investigation of TIO is appropriate when these patients present hypophosphatemia.
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Project description: Not available
| S-EPMC11883303 | biostudies-literature
Project description:BACKGROUND: Gitelman syndrome is an autosomal recessive tubulopathy characterized by hypokalemia, hypomagnesemia, metabolic alkalosis and hypocalciuria. The majority of patients do not present with symptoms until late childhood or adulthood, and the symptoms are generally mild. We report here the first case of Gitelman syndrome presenting with the biological features of Fanconi syndrome and an early polyuria since the neonatal period. We discuss in this article the atypical electrolytes losses found in our patient, as well as the possible mechanisms of severe polyuria. CASE PRESENTATION: A 6-year-old Caucasian girl was admitted via the Emergency department for vomiting, and initial laboratory investigations found hyponatremia, hypokalemia, metabolic acidosis with normal anion gap, hypophosphatemia, and hypouricemia. Urinalysis revealed Na, K, Ph and uric acid losses. Thus, the initial biological profile was in favor of a proximal tubular defect. However, etiological investigations were inconclusive and the patient was discharged with potassium chloride and phosphorus supplementation. Three weeks later, further laboratory analysis indicated persistent hypokalemia, a metabolic alkalosis, hypomagnesemia, and hypocalciuria. We therefore sequenced the SLC12A3 gene and found a compound heterozygosity for 2 known missense mutations. CONCLUSIONS: Gitelman syndrome can have varying and sometimes atypical presentations, and should be suspected in case of hypokalemic tubular disorders that do not belong to any obvious syndromic entity. In this case, the proximal tubular dysfunction could be secondary to the severe hypokalemia. This report emphasizes the need for clinicians to repeat laboratory tests in undiagnosed tubular disorders, especially not during decompensation episodes.
| S-EPMC4131229 | biostudies-literature
Project description:Tenofovir disoproxil fumarate (TDF) is a widely used antiretroviral agent with favorable efficacy, safety, and tolerability profiles. However, renal adverse events, including the rare Fanconi syndrome (FS), may occur in a small subset of patients treated for HIV infections.The aim of this study was to identify genetic variants that may be associated with TDF-associated FS (TDF-FS).DNA samples collected from 19 cases with TDF-FS and 36 matched controls were sequenced, and genetic association studies were conducted on eight candidate genes: ATP-binding cassette (ABC) transporters ABCC2 (MRP2) and ABCC4 (MRP4), solute carrier family members SLC22A6 (OAT1) and SLC22A8 (OAT3), adenylate kinases 2 (AK2) and 4 (AK4), chloride transporter CIC-5 CLCN5, and Lowe syndrome protein OCRL. The functional effects of a single nucleotide polymorphism (SNP) predicted to alter the transport of tenofovir were then investigated in cells expressing an identified variant of ABCC4.The case group showed a trend toward a higher proportion of rare alleles. Six SNPs in ABCC2 (three SNPs), ABCC4 (one SNP), and OCRL (two SNPs) were associated with TDF-FS case status; however, this association did not remain significant after correction for multiple testing. Six SNPs, present in OCRL (four SNPs) and ABCC2 (two SNPs), were significantly associated with increased serum creatinine levels in the cases, and this association remained significant after multiple test correction (P < 2 × 10). One synonymous SNP in ABCC2 (rs8187707, P = 2.10 × 10, ? = -73.3 ml/min/1.73 m(2)) was also significantly associated with the decreased estimated glomerular filtration rate of creatinine among cases. However, these results were driven by rare SNPs present in a small number of severely affected cases. Finally, a previously uncharacterized, nonsynonymous SNP, rs11568694, that was predicted to alter MRP4 function had no significant effect on tenofovir cellular accumulation in vitro.Although no single predictive genetic marker for the development of TDF-FS was identified, the findings from our study suggest that rare variants in multiple genes involved in the renal handling of tenofovir, and/or renal cell homeostasis, may be associated with increased susceptibility to TDF-FS.
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Project description:AbstractintroductionandimportanceAutosomal dominant hypophosphatemic rickets is the most common form of rare rickets, commonly manifests in children but sometimes the condition remains undiagnosed due to lack of knowledge &/or awareness of treating physicians or surgeons.Case presentationWe describe a case of 43 years old female with multiple fragility fractures since childhood, corrected surgically but never investigated. She had stunted growth, bowing deformities and loss of teeth.Clinical discussionA detailed history and examination along with metabolic and genetic work up mounted the diagnosis of X linked hypophosphatemic osteomalacia. The pathophysiology involves the mutation or the loss of the phosphate regulating gene on PHEX, that causes reduced mineralization of bones and teeth.ConclusionDiagnostic delay in this patient resulted in increased disabilities affecting her mobility and lif estyle.
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