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  • 总部: 泰国曼谷市巴吞汪区仑披尼分区 普勒吉路齐隆巷5号.
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RENAL TUBULAR ACIDOSIS, DISTAL, WITH NEPHROCALCINOSIS, SHORT STATURE, MENTAL RETARDATION, AND DISTINCTIVE FACIES

RENAL TUBULAR ACIDOSIS, DISTAL, WITH NEPHROCALCINOSIS, SHORT STATURE, MENTAL RETARDATION, AND DISTINCTIVE FACIES

Faqeih et al. (2007) described a family in which 4 of 11 sibs (3 males, 1 female), born to first-cousin Arab parents, had distal renal tubular acidosis (dRTA), n...

Faqeih et al. (2007) described a family in which 4 of 11 sibs (3 males, 1 female), born to first-cousin Arab parents, had distal renal tubular acidosis (dRTA), nephrocalcinosis, neurobehavioral impairment, short stature, and distinctive facies. Another sib, a male, had died at 1 week of age with severe hydrops and renal failure, and 6 others were unaffected. The facial features included prominent cheeks, large bulbous nose, thickened alae nasi, well-defined philtrum, protruding tongue, and open mouth. The facial profile tended to become more characteristic with age. The affected sibs presented with early developmental delay and later demonstrated severe mental retardation with stereotypic hand movements, self-mutilation, hyperactivity, and impulsivity. MRI revealed dilated ventricles and hypomyelination. All had proteinuria, hypercalciuria, hypercalcemia, and normal anion-gap metabolic acidosis. Renal ultrasound revealed small kidneys, with varying degrees of hyperechogenicity and nephrocalcinosis. Faqeih et al. (2007) proposed autosomal recessive inheritance of this apparently novel disorder.

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