Lysinuric protein intolerance
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop in Atlas of Inherited Metabolic Diseases, 2020
In a study on 39 Finnish patients, proteinuria and hematuria were observed in 74 per cent and 38 percent, respectively. Elevated blood pressure, mild to moderate renal insufficiency and, in some cases, end-stage renal disease and chronic renal failure were reported [35], with proteinuria and progressive glomerular and tubular insufficiency [26, 35]. Disease consistent with systemic lupus erythematosus has been reported [36], and the pulmonary disease may be a manifestation of immune complex problems. A full Fanconi syndrome with clinical rickets and deformities may occur [26]. This may obscure the diagnosis because of a massive generalized aminoaciduria. Calculation of the renal clearances of cationic amino acids (lysine, arginine, and ornithine) helps to clarify the urinary loss of these amino acids. Mean values and ranges of the renal clearances of cationic amino acids in patients with LPI are reported [37]. Oral loading with lysine or arginine to test intestinal absorption may be required for diagnosis in such a patient.
Nutrition
Jagdish M. Gupta, John Beveridge in MCQs in Paediatrics, 2020
2.17. Biochemical abnormalities in kwashiorkor includehypernatraemia.aminoaciduria.lactase deficiency.low serum albumin.potassium deficiency.
Renal Effects
Lars Friberg, Tord Kjellström, Carl-Gustaf Elinder, Gunnar F. Nordberg in Cadmium and Health: A Toxicological and Epidemiological Appraisal, 2019
In patients with Itai-itai disease the renal tubular dysfunction was evident also in the form of decreased excretion of phenolsulfonphtalein (PSP).146 The lower normal limit of excretion is 25% after 15 min, but in seven of the ten patients tested the excretion was 10 to 22.5% and for the other three patients it was 25%.146 Many of the patients also had aminoaciduria, reduced ability to dilute and concentrate urine and to reabsorb phosphorus.151 The thiosulfate and PAH clearance were low.146
Partial Fanconi syndrome induced by ifosfamide
Published in Baylor University Medical Center Proceedings, 2019
Muhammad Ajmal Panezai, Charles Owen, Harold M. Szerlip
Over the course of his hospitalization, the patient experienced a gradual worsening of serum electrolyte levels requiring large amounts of replacement potassium and phosphorus (Figure 1). His renal function and serum bicarbonate remained normal and his urine pH was <6.0 throughout the admission. A urine protein–creatinine ratio was 5.3 g/g with a urine albumin–creatinine ratio of 329 mg/g; 24-hour urine collection revealed excretion of 126 mmol potassium, 2.2 g phosphorus 5338 mg protein, and 343 mg albumin. Urine amino acid quantitative test showed marked generalized aminoaciduria. Until his death on day 60 of the hospitalization, he required continued electrolyte supplementation.
The safety of current pharmacotherapeutic strategies for osteosarcoma
Published in Expert Opinion on Drug Safety, 2021
Mariella Spalato, Antoine Italiano
IFO is an alkylating chemotherapeutic agent of the oxaphosphorines. It is a nitrogen mustard-like alkylating agent that requires activation in the liver to form its active intermediaries, which act by modifying and cross-linking purine bases in DNA, thus inhibiting DNA, RNA, and protein synthesis and leading to programmed cell death (apoptosis) in rapidly dividing cells. IFO causes clinical nephrotoxicity in up to 30% of patients[36]. Nevertheless, the reported prevalence of nephrotoxicity ranges from 15% to 60%, according to the definition of kidney injury, the duration of follow-up, and the therapeutic protocols[36]. IFO-induced renal injury derives from the inhibition of oxidative phosphorylation, which results in a spectrum of nephrotoxic phenotypes. The clinical presentation depends on the type, the severity, and the reversibility of the kidney injury, as well as on the time to onset after the administration of the treatment. The inhibition of renal thioredoxin reductase activity can induce an AKI[37], which can progress to chronic kidney injury (CKI). The most frequent damage is type 2 proximal renal tubular acidosis (RTA) [38,39]. In one study of 120 patients who received a median cumulative IFO dose of 30 g/m2, evidence of proximal tubular dysfunction was seen in 66% of patients 3 months after completing treatment, and 7% of patients had Fanconi syndrome[40]. Fanconi syndrome is a proximal tubule defect in which resorption of glucose, amino acids, phosphate, and bicarbonate is impaired, causing excessive urinary losses, and consequently metabolic acidosis, hypophosphatemia, and hypokalemia. Aminoaciduria and glucosuria are usually not clinically significant. Distal or type 1 RTA tubular involvement is rare[41]. Nephrogenic diabetes insipidus, clinically represented by marked polyuria, is also uncommon. Nephrotoxicity is generally reversible, but in some patients glomerular and tubular function can continue to deteriorate even after the end of treatment[42].
Related Knowledge Centers
- Glomerulus
- Liver Disease
- Nephron
- Transport Protein
- Urine
- Amino Acid
- Blood Plasma
- Phenylketonuria
- Congenital Disorders of Amino Acid Metabolism
- Hartnup Disease