A novel mutation in exon 9 of Cullin 3 gene contributes to aberrant splicing in pseudohypoaldosteronism type II
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DOI: 10.1002/2211-5463.12389
Abstract: Pseudohypoaldosteronism type II (PHAII) is a rare renal tubular disease that is inherited in an autosomal dominant manner. Mutations in four genes (WNK1, WNK4, CUL3, and KLHL3) have been identified to be responsible for this… read more here.
Keywords: cul3; exon; pseudohypoaldosteronism type; mutation ... See more keywords
Diagnostic and management considerations in pseudohypoaldosteronism type 1b
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DOI: 10.1136/bcr-2021-246538
Abstract: Pseudohypoaldosteronism type 1B is a rare autosomal recessive disorder caused by dysfunction of amiloride-sensitive epithelial sodium channels (ENaCs). We present the case of a neonate with cardiogenic shock after cardiac arrest due to profound hyperkalaemia.… read more here.
Keywords: considerations pseudohypoaldosteronism; pseudohypoaldosteronism type; diagnostic management; pseudohypoaldosteronism ... See more keywords
Acid–Base Imbalance in Pseudohypoaldosteronism Type 1 in Comparison With Type IV Renal Tubular Acidosis
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DOI: 10.1210/jendso/bvac147
Abstract: Abstract Context Pseudohypoaldosteronism type 1 (PHA1) has been treated as a genetic variant of type IV renal tubular acidosis (RTA), leading to the conception that PHA1 develops hyperchloremic acidosis with a normal anion gap (AG).… read more here.
Keywords: acidosis; type renal; pseudohypoaldosteronism type; acid base ... See more keywords
A case worth its salt: an abnormal presentation of pseudohypoaldosteronism type 1 in an infant
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DOI: 10.1542/peds.146.1_meetingabstract.182
Abstract: Introduction Pseudohypoaldosteronism type 1 (PHA1) is a rare genetic disorder characterized by resistance to aldosterone. Infants often present with weight loss, emesis, and dehydration, and expected lab values include hyponatremia, hyperkalemia, elevated aldosterone, and elevated… read more here.
Keywords: pseudohypoaldosteronism type; case worth; case; worth salt ... See more keywords
Pseudohypoaldosteronism type 1b in fraternal twins of a Chinese family: report of two cases and literature review.
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DOI: 10.20945/2359-3997000000620
Abstract: Here, we report the clinical observations of two Chinese fraternal twins who presented with severe dehydration, poor feeding, and absence of stimuli responses within a few days of birth. Trio clinical exome sequencing of the… read more here.
Keywords: type fraternal; family; pseudohypoaldosteronism type; fraternal twins ... See more keywords
Pseudohypoaldosteronism Type II Caused by CUL3 Mutation Presented with Visual Impairment
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DOI: 10.4103/0366-6999.237397
Abstract: To the Editor: Pseudohypoaldosteronism Type II (PHAII), also known as Gordon syndrome, is a rare autosomal disease, caused by mutations in WNK1, WNK4, CUL3, or KLHL3 genes. Hitherto, about 200 individuals and families have been… read more here.
Keywords: caused cul3; pseudohypoaldosteronism type; cul3 mutation;