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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.
Finally, ABCB6 missense mutations were identified in different pedigrees of familial pseudohyperkalemia. New genomic technologies have improved the quality and reduced the time of diagnosis of these diseases. ...
Finally, ABCB6 missense mutations were identified in different pedigrees of familial pseudohyperkalemia. New genomic technolog …
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.
The gene responsible for both dehydrated hereditary stomatocytosis and familial pseudohyperkalemia, a nonhemolytic variant that presents with high plasma K+ levels, has been mapped to 16q23-qter. ...
The gene responsible for both dehydrated hereditary stomatocytosis and familial pseudohyperkalemia, a nonhemolytic variant tha …
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 …
Functional characterization of novel ABCB6 mutations and their clinical implications in familial pseudohyperkalemia.
Andolfo I, Russo R, Manna F, De Rosa G, Gambale A, Zouwail S, Detta N, Pardo CL, Alper SL, Brugnara C, Sharma AK, De Franceschi L, Iolascon A. Andolfo I, et al. Haematologica. 2016 Aug;101(8):909-17. doi: 10.3324/haematol.2016.142372. Epub 2016 May 5. Haematologica. 2016. PMID: 27151991 Free PMC article.
Isolated familial pseudohyperkalemia is a dominant red cell trait characterized by cold-induced 'passive leak' of red cell potassium ions into plasma. ...All these mutations are annotated in public databases, suggesting that familial pseudohyperkalemia …
Isolated familial pseudohyperkalemia is a dominant red cell trait characterized by cold-induced 'passive leak' of red cell pot …
Marked hyperkalemia due to inappropriate blood sample storage in two suspected cases of familial pseudohyperkalemia.
Kuwano K, Shimizu S, Fujita Y, Akatsu S, Shibagaki Y, Yazawa M. Kuwano K, et al. CEN Case Rep. 2023 Nov;12(4):397-401. doi: 10.1007/s13730-023-00781-y. Epub 2023 Mar 12. CEN Case Rep. 2023. PMID: 36907981 Free PMC article.
We reproduced the laboratory examination conditions of the clinics and found that hyperkalemia was due to sampling/storage condition of serum, which is strongly suggestive of familial pseudohyperkalemia (FP). FP is a possible but under-appreciated cause of hyperkale …
We reproduced the laboratory examination conditions of the clinics and found that hyperkalemia was due to sampling/storage condition of seru …
Familial pseudohyperkalemia maps to the same locus as dehydrated hereditary stomatocytosis (hereditary xerocytosis).
Iolascon A, Stewart GW, Ajetunmobi JF, Perrotta S, Delaunay J, Carella M, Zelante L, Gasparini P. Iolascon A, et al. Blood. 1999 May 1;93(9):3120-3. Blood. 1999. PMID: 10216110 Free article.
Familial pseudohyperkalemia is a "leaky red blood cell" condition in which the cells show a temperature-dependent loss of potassium (K) from red blood cells when stored at room temperature, manifesting as apparent hyperkalemia. ...
Familial pseudohyperkalemia is a "leaky red blood cell" condition in which the cells show a temperature-dependent loss of pota …
Familial pseudohyperkalemia: a rare cause of hyperkalemia.
Sugimoto T, Kume S, Osawa N, Nakazawa J, Koya D, Kashiwagi A. Sugimoto T, et al. Intern Med. 2005 Aug;44(8):875-8. doi: 10.2169/internalmedicine.44.875. Intern Med. 2005. PMID: 16157991 Free article.