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Your search keyword '"Almaiman, Weiam"' showing total 3 results
Start Over Author "Almaiman, Weiam" Journal asian journal of pediatric nephrology
3 results on '"Almaiman, Weiam"'

3. An infant with Cholestasis and Refractory Electrolyte Abnormalities.

Author

Alsubaie, Hadel, Kattan, Yara S., Alshareef, Turki A., Aldekhail, Wajeeh, and Almaiman, Weiam

Subjects
PHYSICAL diagnosis, FOOT abnormalities, ARTHROGRYPOSIS, CHOLESTASIS, FLUID therapy, SEQUENCE analysis, TACHYPNEA, NEONATAL jaundice, WATER-electrolyte imbalances, MICROCEPHALY, ASPIRATION pneumonia, INBORN errors of metabolism, ICHTHYOSIS, URINALYSIS, POLYURIA, RESPIRATORY distress syndrome, ACIDOSIS, HYPOALDOSTERONISM, FAMILY history (Medicine)
Abstract

Arthrogryposis-renal dysfunction-cholestasis (ARC) is a rare multisystem disorder caused by mutations in the VPS33B gene, which in turn lead to a premature truncation of the gene product. This autosomal recessive disease has variations in phenotype. We report an infant girl who had severe presentation in the form of dysmorphic features, abnormal hearing assessment and refractory electrolytes disturbances. She was a product of consanguineous marriage with family history of similar presentation. The child passed away at age of 6 months due to aspiration pneumonia. [ABSTRACT FROM AUTHOR]

Published
2022
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