ABSTRACT
Nephronophthisis (NPHP) is a group of autosomal recessive tubulointerstitial cystic kidney disorders. This article reports a case of NPHP type 12 caused by TTC21B mutations. The girl had an insidious onset, with moderate proteinuria, renal dysfunction, stage 2 hypertension, situs inversus, and short phalanges when she visited the hospital for the first time at the age of 3 years and 6 months. The renal lesions progressed to end-stage renal disease (ESRD) before she was 4 years old. Urine protein electrophoresis showed glomerular proteinuria. There were significant increases in urinary β2-microglobulin and α1-microglobulin. Gene detection revealed two compound heterozygous mutations, c.1552T>C (p.C518R) and c.752T>G (p.M251R), in the TTC21B gene, which came from her father and mother respectively. The c.752T>G mutation was a novel mutation. It is concluded that besides typical tubular changes of NPHP, marked glomerular damage is also observed in patients with TTC21B gene mutations.
Subject(s)
Child, Preschool , Female , Humans , Genotype , Kidney , Kidney Diseases, Cystic , Kidney Failure, Chronic , Microtubule-Associated Proteins , Genetics , Mutation , Nephrosis , GeneticsABSTRACT
OBJECTIVE To analyse the result of mastoid abnormal MRI singals in infants without clinical symptoms and to evaluate the diagnostic value. METHODS The MRI data of abnormal signals in the middle ear and mastoid of 42 infants(62 ears) were analyzed with 1000 Hz probe tone tympanometry and oto-endoscope. RESULTS Of the infants with abnormal MRI signals of the middle ear and mastoid, 50 ears were secretory otitis media(80.7％), 10 ears had dysfunction of middle ear (16.1％), and 2 ears were not identified. CONCLUSION In the infant who had a abnormal long T2 singals MRI but without clinical symptoms, 80.7％ were caused by SOM or AOM. It is valuable for clinical efficacy evaluation and treatment planning in advance.
ABSTRACT
Objective To analyze the CT findings of melamine induced urinary calculi.Methods Nineteen children with a history of ingestion of melamine contaminated infant formula milk were studied, including 12 males and 7 females, age ranged from 50 days to 5 years.Results CT demonstrated renal pelvic and ureteral stones in 13 cases, with urinary obstruction in 9 of them.The size of the stones ranged from 0.3 cm × 0.3 cm to stag-horn calculus.The density of the stones measured from a low of 40-70 HU up to a high of 410 HU with an average density of 160 HU.Conclusion CT scan is an excellent modality in demonstrating urinary tract calculi caused by melamine. It is the method of choice when ultrasound examinations are equivocal.