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Page 1
Pseudohyperkalemia: Three Cases and a Review of Literature.
Saleh-Anaraki K, Jain A, Wilcox CS, Pourafshar N. Saleh-Anaraki K, et al. Am J Med. 2022 Jul;135(7):e150-e154. doi: 10.1016/j.amjmed.2022.01.036. Epub 2022 Apr 8. Am J Med. 2022. PMID: 35398330 Review.
Hyperkalemia is a potentially fatal complication requiring prompt diagnosis and management. However, pseudohyperkalemia, defined as an artificial rise in serum potassium (S(k)), is also an important diagnosis because management differs. Pseudohyperkalemia can …
Hyperkalemia is a potentially fatal complication requiring prompt diagnosis and management. However, pseudohyperkalemia, defined as a …
Hereditary stomatocytosis: An underdiagnosed condition.
Andolfo I, Russo R, Gambale A, Iolascon A. Andolfo I, et al. Am J Hematol. 2018 Jan;93(1):107-121. doi: 10.1002/ajh.24929. Epub 2017 Oct 23. Am J Hematol. 2018. PMID: 28971506 Free article. Review.
This review summarizes the main features of erythrocyte membrane transport diseases, dividing them into forms with either isolated erythroid phenotype (nonsyndromic) or extra-hematological manifestations (syndromic), and focusing particularly on the most recent advances regarding …
This review summarizes the main features of erythrocyte membrane transport diseases, dividing them into forms with either isolated erythroid …
New insights on hereditary erythrocyte membrane defects.
Andolfo I, Russo R, Gambale A, Iolascon A. Andolfo I, et al. Haematologica. 2016 Nov;101(11):1284-1294. doi: 10.3324/haematol.2016.142463. Epub 2016 Oct 18. Haematologica. 2016. PMID: 27756835 Free PMC article. Review.
Missense, gain-of-function mutations in the PIEZO1 gene have been identified in several families as causative of dehydrated hereditary stomatocytosis or xerocytosis. ...Finally, ABCB6 missense mutations were identified in different pedigrees of familial pseudohyp …
Missense, gain-of-function mutations in the PIEZO1 gene have been identified in several families as causative of dehydrated hereditar …
Hereditary dehydrated and overhydrated stomatocytosis: recent advances.
Delaunay J, Stewart G, Iolascon A. Delaunay J, et al. Curr Opin Hematol. 1999 Mar;6(2):110-4. doi: 10.1097/00062752-199903000-00009. Curr Opin Hematol. 1999. PMID: 10088641 Review.
Dehydrated hereditary stomatocytosis, the most common form of hereditary stomatocytosis, is more heterogeneous than previously thought and includes kindreds showing pseudohyperkalemia or perinatal edema, or both. The gene responsible for both dehydrated hereditary stomatoc …
Dehydrated hereditary stomatocytosis, the most common form of hereditary stomatocytosis, is more heterogeneous than previously thought and i …
The hereditary stomatocytoses: genetic disorders of the red cell membrane permeability to monovalent cations.
Delaunay J. Delaunay J. Semin Hematol. 2004 Apr;41(2):165-72. doi: 10.1053/j.seminhematol.2004.02.005. Semin Hematol. 2004. PMID: 15071792 Review.
The key test for diagnosis is osmotic gradient ektacytometry, which measures the osmotic resistance and hydration of the red blood cell; the curve depicting the temperature dependence of the cation leak is also important. Syndromes include familial pseudohyperkalemia …
The key test for diagnosis is osmotic gradient ektacytometry, which measures the osmotic resistance and hydration of the red blood cell; the …