RESUMO
Objective To explore the clinical features and gene diagnosis of the distal renal tubular acidosis (dRTA). Methods The clinical data and gene detection results of one child with dRTA were retrospectively analyzed. The related literatures were reviewed. Results Four-month-old female was admitted with frequent vomiting and hearing impairment. The laboratory examination showed refractory hypokalemia and it was difficult to correct metabolic acidosis. Gene detection found a new mutation on ATP6V1B1 gene. The diagnosis of dRTA was confirmed. Conclusions dRTA is a rare disease, ATP6V1B1 gene is the causative gene of the dRTA with sensorineural deafness.
RESUMO
Objective To explore the clinical features and gene mutation types of Cornelia de Lange syndrome (CdLS), an inherited metabolic disease. Methods The clinical data and gene detection results of one case of CdLS were retrospectively analyzed. Results Two-year-old male had special appearance, microcephaly, bushy eyebrows with both sides meeting in the midline, long curly eyelashes, low body mass, and motor and mental retardation. NIPBL gene detection found the variation of the nucleotide in c.7176T>A (nucleotide 7176 in coding region changed from T to A). Conclusions CdLS is a rare congenital inherited metabolic disease. The clinical manifestations were special appearance and signs. The c.7176T>A mutation in NIPBL gene has not been reported at home and abroad.