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Immunosuppressants, rheumatic and gastrointestinal topics
Published in Evelyne Jacqz-Aigrain, Imti Choonara, Paediatric Clinical Pharmacology, 2021
Evelyne Jacqz-Aigrain, Imti Choonara
At present this issue is not entirely resolved but the risk, as it is, appears minimal. Particular care should be used in prescribing hGH in patients at risk for leukaemia. This is particularly the case for patients with Fanconi syndrome [8].
Hepatorenal tyrosinemia/fumarylacetoacetate hydrolase deficiency
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
Hepatorenal tyrosinemia, which has been referred to as tyrosinemia type 1, tyrosinosis, or hereditary tyrosinemia, was first reported by Sakai and Kitagawa in 1957 [1–3]. The patient reported was the product of a consanguineous mating, who developed progressive liver disease, which led to death following hematemesis and hepatic coma at three years of age. In addition, the patient had rickets, which was resistant to vitamin D. The major metabolic products in the urine were p-hydroxyphenyllactic acid, p-hydroxyphenylpyruvic acid, and p-hydroxyphenylacetic acid, as well as tyrosine. Gentz and colleagues [4], in a report of seven patients with the disease, first characterized the renal component as Fanconi syndrome. It was noted that patients had neurologic crises reminiscent of porphyria [5, 6], and this led to the recognition that δ-aminolevulinic acid was excreted in large amounts [6–9]. Lindblad and colleagues [10] reported that succinylacetone, which they found in the urine of these patients, is an inhibitor of the synthesis of porphobilinogen from δ-aminolevulinic acid. They reasoned that the fundamental defect was in the activity of fumarylacetoacetate hydrolase (Figure 22.1). This was confirmed enzymatically by these investigators [11] and others [12–14].
Renal Diseases
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
The outlook depends on the cause of the Fanconi syndrome. In addition, several of the causes lead to CKD (especially cystinosis, Lowe syndrome, tyrosinaemia and ‘idiopathic’ cases), although this occurs at a variable rate.
Tubular basement membrane amyloid deposition: is it an indicator of renal progression in light chain amyloidosis?
Published in Renal Failure, 2023
Csilla Markóth, László Bidiga, László Váróczy, Ibolya File, József Balla, János Mátyus
Apart from the uncertain effect on renal function, amyloid deposition in the TBM was not associated with other clinical consequences. Glucosuria was observed only in one patient without TBM amyloid involvement. No other symptoms were suggestive of Fanconi syndrome. This is typically observed in light chain proximal tubulopathy when the excess free light chain injures proximal tubular epithelial cells, sometimes with crystal formation in the cytoplasm [15]. Very rarely, intracellular amyloid, termed amyloid proximal tubulopathy, has been detected in such cases [16]. One of our patients experiencing LA without TBM amyloid involvement (case 11) had LC cast nephropathy, but no amyloid casts were formed, which is not a rare phenomenon in such cases [6,17]. None of the patients had polyuria or diabetes insipidus, which have been reported in cases with predominant tubulointerstitial amyloid involvement [18]. This is mostly observed when the medullary region is involved. In cases with non-significant glomerular deposition (resulting in less proteinuria), the clinical presentation could suggest acute interstitial nephritis, especially in patients with a predisposition, such as in Sjogren syndrome [19]. Rarely, giant cell reactions provoked by interstitial amyloid deposits are observed, typically in AA amyloidosis, but they also occur in LA and LCDD [20,21].
Incapacitating pain from Tenofovir Induced Hypophosphatemic Osteomalacia in a Hemophilia Patient – A Case Report
Published in Canadian Journal of Pain, 2020
Emma Woo, Dinesh Kumbhare, Paul Winston
In patients with hemophilia who would have received blood transfusions in the 1980s, it is important to consider the possibility of an infusion-acquired HIV infection that is being treated with antiretrovirals with pain-causing side effects.6 There is a known association between Fanconi syndrome and resulting osteomalacia in tenofovir-treated patients.8–10 Fanconi syndrome is a rare disorder resulting in excess excretion of glucose, bicarbonate, phosphates, uric acid, potassium, and some amino acids. Patients usually present with normal glomerular function, pain, muscle weakness, and decreased energy.11 Fanconi syndrome is defined as inadequate reabsorption in the proximal renal tubules of the kidney and can be caused by a range of underlying congenital or acquired diseases, as well as drug toxicity. A review of the U.S. Food and Drug Administration’s Adverse Event Reporting System from 2001 to 2006 identified 164 tenofovir fumarate–treated patients with HIV with Fanconi syndrome.8 Patients with Fanconi syndrome subsequently have risks of electrolyte abnormalities and acid-base disturbances and are at risk for hypophosphatemic osteomalacia.12 In turn, these patients have an increased burden of pain, increased fracture risk, and decreased quality of life. Given the potential for diagnostic ambiguity, these patients are at risk for delayed diagnosis. Treatment of Fanconi syndrome and complications of hypophosphatemic osteomalacia involves treating the cause and generally results in a good prognosis.12,13
Renal involvement in paroxysmal nocturnal hemoglobinuria: an update on clinical features, pathophysiology and treatment
Published in Hematology, 2018
Styliani I Kokoris, Eleni Gavriilaki, Aggeliki Miari, Αnthi Travlou, Elias Kyriakou, Achilles Anagnostopoulos, Elissavet Grouzi
Fanconi syndrome is another important finding in PNH patients, caused by proximal tubular defects and CKD. Although Fanconi syndrome has been described in PNH since 1975, its incidence is probably under-estimated [24–26]. In PNH patients that developed Fanconi syndrome, CKD co-existed with proximal tubular dysfunction (presented as renal glucosuria, proteinuria and aminociduria). Early recognition of Fanconi syndrome in PNH is necessary in order to implement proper treatment (calcium phosphate and calcitriol supplementation). The role of iron chelators in PNH remains to be proven [26], due to its observed side effects in other chronic anemias [27] (e.g. deferoxamine has been associated with reversible bilateral central serous retinopathy in the PNH setting [28]).