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Page 1
Fanconi Syndrome.
Foreman JW. Foreman JW. Pediatr Clin North Am. 2019 Feb;66(1):159-167. doi: 10.1016/j.pcl.2018.09.002. Pediatr Clin North Am. 2019. PMID: 30454741 Review.
Fanconi syndrome, also known as the DeToni, Debre, Fanconi syndrome is a global dysfunction of the proximal tubule characterized by glucosuria, phosphaturia, generalized aminoaciduria, and type II renal tubular acidosis. Often there is hypokalemia, sodium wasting, a …
Fanconi syndrome, also known as the DeToni, Debre, Fanconi syndrome is a global dysfunction of the proximal tubule characterized by glucosur …
Renal tubular acidosis.
Rothstein M, Obialo C, Hruska KA. Rothstein M, et al. Endocrinol Metab Clin North Am. 1990 Dec;19(4):869-87. Endocrinol Metab Clin North Am. 1990. PMID: 2081516 Review.
There are three physiologic types whose basic defects are impairment of or a decrease in acid excretion, i.e., type 1 (dRTA); a failure in bicarbonate reabsorption, i.e., type 2 (pRTA); and deficiency of buffer or impaired generation of NH4+, i.e., type 4 RTA. Several path …
There are three physiologic types whose basic defects are impairment of or a decrease in acid excretion, i.e., type 1 (dRTA); a failure in b …
Anticancer drug-induced kidney disorders.
Kintzel PE. Kintzel PE. Drug Saf. 2001 Jan;24(1):19-38. doi: 10.2165/00002018-200124010-00003. Drug Saf. 2001. PMID: 11219485 Review.
Nephrotoxicity is an inherent adverse effect of certain anticancer drugs. Renal dysfunction can be categorised as prerenal uraemia, intrinsic damage or postrenal uraemia according to the underlying pathophysiological process. ...Additional signs of streptozocin-induced nep …
Nephrotoxicity is an inherent adverse effect of certain anticancer drugs. Renal dysfunction can be categorised as prerenal uraemia, i …
Inborn errors in the metabolism of glutathione.
Ristoff E, Larsson A. Ristoff E, et al. Orphanet J Rare Dis. 2007 Mar 30;2:16. doi: 10.1186/1750-1172-2-16. Orphanet J Rare Dis. 2007. PMID: 17397529 Free PMC article. Review.
Gamma-glutamylcysteine synthetase deficiency is also associated with hemolytic anemia, and some patients with this disorder show defects of neuromuscular function and generalized aminoaciduria. Gamma-glutamyl transpeptidase deficiency has been found in patients with …
Gamma-glutamylcysteine synthetase deficiency is also associated with hemolytic anemia, and some patients with this disorder show defects of …
[Cystinuria: diagnosis and therapeutic approach].
Morales CM. Morales CM. An Sist Sanit Navar. 2011 Sep-Dec;34(3):453-61. doi: 10.4321/s1137-66272011000300011. An Sist Sanit Navar. 2011. PMID: 22233848 Free article. Review. Spanish.
Cystinuria is an aminoaciduria due to the impairment of transport of cystine and dibasic amino acids (arginine, ornithine, and lysine) in the apical membrane of the intestinal epithelium and proximal renal tubule. ...
Cystinuria is an aminoaciduria due to the impairment of transport of cystine and dibasic amino acids (arginine, ornithine, and lysine …
Acquired Fanconi's syndrome associated with monoclonal gammopathies.
Lacy MQ, Gertz MA. Lacy MQ, et al. Hematol Oncol Clin North Am. 1999 Dec;13(6):1273-80. doi: 10.1016/s0889-8588(05)70126-x. Hematol Oncol Clin North Am. 1999. PMID: 10626150 Review.
Franconi's syndrome is a rare complication of the monoclonal gammopathies characterized by diffuse failure in reabsorption at the level of the proximal renal tubule resulting in glycosuria, generalized aminoaciduria, and hypophosphatemia. Current evidence suggests m …
Franconi's syndrome is a rare complication of the monoclonal gammopathies characterized by diffuse failure in reabsorption at the level of t …
Renal Fanconi syndrome: taking a proximal look at the nephron.
Klootwijk ED, Reichold M, Unwin RJ, Kleta R, Warth R, Bockenhauer D. Klootwijk ED, et al. Nephrol Dial Transplant. 2015 Sep;30(9):1456-60. doi: 10.1093/ndt/gfu377. Epub 2014 Dec 9. Nephrol Dial Transplant. 2015. PMID: 25492894 Review.
Renal Fanconi syndrome (RFS) refers to the generalized dysfunction of the proximal tubule (PT) (Kleta R. Fanconi or not Fanconi? ...Idiopathic Fanconi syndrome in a family. Part I. Clinical aspects. J Am Soc Nephrol 1992; 2: 1310-1317). ...
Renal Fanconi syndrome (RFS) refers to the generalized dysfunction of the proximal tubule (PT) (Kleta R. Fanconi or not Fanconi? ...I …
Metabolic disorders of fetal life: glycogenoses and mitochondrial defects of the mitochondrial respiratory chain.
Dimauro S, Garone C. Dimauro S, et al. Semin Fetal Neonatal Med. 2011 Aug;16(4):181-9. doi: 10.1016/j.siny.2011.04.010. Epub 2011 May 28. Semin Fetal Neonatal Med. 2011. PMID: 21620786 Review.
Two major groups of inborn errors of energy metabolism are reviewed -glycogenoses and defects of the mitochondrial respiratory chain - to see how often these disorders present in fetal life or neonatally. After some general considerations on energy metabolism in the pre- a …
Two major groups of inborn errors of energy metabolism are reviewed -glycogenoses and defects of the mitochondrial respiratory chain - to se …
Clinical features of Balkan endemic nephropathy.
Radonić M, Radosević Z. Radonić M, et al. Food Chem Toxicol. 1992 Mar;30(3):189-92. doi: 10.1016/0278-6915(92)90032-g. Food Chem Toxicol. 1992. PMID: 1618441 Review.
Non-characteristic lumbar pain may be present and episodes of macrohaematuria may occur. There is no fever, no severe dysuria, and no general disease preceding the symptoms. No oedema of the nephrotic type is recognized. ...Bacteriuria is present in about 20% of women pati …
Non-characteristic lumbar pain may be present and episodes of macrohaematuria may occur. There is no fever, no severe dysuria, and no gen …
Fanconi's syndrome in HIV+ adults: report of three cases and literature review.
Earle KE, Seneviratne T, Shaker J, Shoback D. Earle KE, et al. J Bone Miner Res. 2004 May;19(5):714-21. doi: 10.1359/jbmr.2004.19.5.714. J Bone Miner Res. 2004. PMID: 15068493 Free article. Review.
She demonstrated hypophosphatemia, metabolic acidosis, phosphaturia, glucosuria, and generalized aminoaciduria. These abnormalities resolved with oral phosphate replacement and discontinuation of the antiretroviral medication tenofovir. ...With calcium, phosphate, p …
She demonstrated hypophosphatemia, metabolic acidosis, phosphaturia, glucosuria, and generalized aminoaciduria. These abnormal …
15 results