X-linked hyper-IgM syndrome associated with pulmonary manifestations: A very rare case of functional mutation in CD40L gene in Iran.

Hyper IgM (HIGM) syndromes are a complex of primary immunodeficiency disorders. A 4-years-old boy with recurrent fever and chills, dyspnea, sort throat for a month was admitted to emergency department. In the current case, whole exome sequencing followed by Sanger sequencing were employed in order to screen probable functional mutations. Molecular analysis revealed a functional mutation across the CD40L gene (NM_000074: exon5: c.T464C) resulted in amino acid change p.L155P attributed to X-linked hyper IgM syndrome. The findings of the current study signify the critical role of microbial infection as well as XHIGM screening, particularly in those children cases with respiratory symptoms.

The Value of Urinary Cystatin C Level to Predict Neonatal Kidney Injury.

BACKGROUND: The role of urinary cystatin C to early predict acute kidney injury (AKI) in children and neonates remains uncertain. The present study aimed to assess and compare the level of urinary cystatin C in neonates with and those without AKI. METHODS: This cross-sectional study was performed on 55 available neonates who were involved by AKI and admitted to the neonatal department at Ali-Asghar hospital in Tehran in 2016. 97 neonates with jaundice and normal serum creatinine level were randomly selected as the control group. In both groups and on admission, the urine levels of cystatin C and creatinine were measured. RESULTS: The average urinary level of cystatin C was 162.87 ± 56.50 mmol/mole creatinine in the group with AKI and 68.06 ± 57.16 mmol/mole creatinine in the control group that was significantly higher in former group (p < 0.001). The measurement of cystatin C level in urine could predict kidney injury with a sensitivity of 98.2%, a specificity of 39.2%, a positive predictive value of 47.8%, a negative predictive value of 97.4%, and an accuracy of 60.5%. Assessment of the area under the receiver operating characteristic (ROC) analysis showed that measuring urinary cystatin C level could effectively discriminate kidney injury from normal kidney condition in neonates (AUC = 0.868, 95CI: 0.811 - 0.925, P < 0.001). The best cutoff value of urinary cystatin C level to predict kidney injury was shown to be 41.5 mmol/mole creatinine yielding a sensitivity of 98.2% and a specificity of 46.4%. CONCLUSION: Measurement of cystatin C in urine is an early sensitive method to diagnose neonatal kidney injury.