scholarly journals Mutation affecting the conserved acidic WNK1 motif causes inherited hyperkalemic hyperchloremic acidosis

2020 ◽  
Vol 130 (12) ◽  
pp. 6379-6394
Author(s):  
Hélène Louis-Dit-Picard ◽  
Ilektra Kouranti ◽  
Chloé Rafael ◽  
Irmine Loisel-Ferreira ◽  
Maria Chavez-Canales ◽  
...  
Diabetes ◽  
1981 ◽  
Vol 30 (4) ◽  
pp. 310-313 ◽  
Author(s):  
M. S. Oh ◽  
M. A. Banerji ◽  
H. J. Carroll

2005 ◽  
Vol 103 (1) ◽  
pp. 203-204 ◽  
Author(s):  
Monika Schäfer ◽  
Britta S. Von Ungern-Sternberg ◽  
Edward Wight ◽  
Markus C. Schneider

PEDIATRICS ◽  
1955 ◽  
Vol 16 (1) ◽  
pp. 67-72
Author(s):  
Seymour S. Jurow ◽  
Robert O Warthen

A case of hyperchloremic acidosis, nephrocalcinosis and renal rickets occurring in a 6-year-old boy is presented. Many cases of this disease and its variants begin in childhood and awareness of the conditions may help to bring patients to treatment earlier. An associated, but probably unrelated, mild hemolytic anemia and splenomegaly of unknown etiology is described.


Diabetes ◽  
1981 ◽  
Vol 30 (4) ◽  
pp. 310-313 ◽  
Author(s):  
M. S. Oh ◽  
M. A. Banerji ◽  
H. J. Carroll

PEDIATRICS ◽  
1957 ◽  
Vol 20 (2) ◽  
pp. 337-357
Author(s):  
Carolyn F. Piel

As indicated in the preceding sections of this review, it seems evident that renal diabetes insipidus, renal glycosuria, "cystinuria" and renal hyperchloremic acidosis are unquestionably renal tubular diseases. Vitamin D resistant rickets has tentatively been placed in the same category although it is recognized that the evidence for this classification is not yet thoroughly convincing. All of the findings of the Fanconi syndrome seem actually to represent a summation of the single tubular diseases, except "cystinosis." Known renal tubular dysfunction fails to explain the cystine-storage disease, cystinosis.


2010 ◽  
Vol 27 ◽  
pp. 178
Author(s):  
S. González-Suárez ◽  
A. Mora ◽  
L. Camps ◽  
C. Bosch ◽  
E. Serrano

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