Ocular findings in patients with cholestatic disorders of infancy: a single-centre experience

Background and study aims: Neonatal cholestasis can be associated with ocular findings that might aid in its diagnosis, e.g., Alagille syndrome [AGS] and Niemann Pick disease [NPD]. We aimed to investigate the frequency of ocular manifestations in infants with cholestasis

Patients and methods: This cross-sectional study included cholestatic infants presenting to the Paediatric Hepatology Unit, Cairo University Paediatric Hospital, Cairo, Egypt. All infants underwent examination of lid, ocular motility, anterior and posterior segments and measurement of intraocular pressure, cycloplegic refraction, ocular ultrasonography and vision

Results: The study included 112 infants with various cholestasis; 73 [65.2%] were males. The median age was 2 months. Diagnosis was reached in 39 cases: 14 had AGS, 14 had biliary atresia [BA], 4 had NPD, 4 had post-haemolytic cholestasis, 2 had cytomegalovirus neonatal hepatitis, and one case had hepatorenal tyrosinaemia. Thirteen cases were probably having progressive familiar intrahepatic cholestasis [PFIC] type 1 or 2 considering their persistent cholestasis in the presence of normal gamma-glutamyl transpeptidase; 28 were left with a diagnosis of "idiopathic neonatal hepatitis" [INH], and 32 [28.6%] had no definite diagnosis. Ophthalmologic abnormalities were found in 39 cases [34.8%]. The commonest finding was unilateral/bilateral optic nerve drusen in 12 [10.7%], followed by posterior embryotoxon in 11 [9.8%]. Ocular findings were observed in 64.3% patients with AGS, 50% patients with NPD, 30.8% cases with suspected PFIC type 1or 2, 28.6% infants with INH, and 14.3% patients with BA

Conclusion: Ophthalmologic findings are not uncommon among cholestatic infants. Ophthalmologic examination should be routinely performed, including assessment of anterior segment, fundus examination, and ocular ultrasound

Assessment of nitric oxide and prostaglandins levels in different pathological types of glomerular disease

The objective of this study was to evaluate plasma nitrite and nitrate as well as urinary nitrite levels in forty cases with different glomerular disorders. In addition, serum thromboxane A2 [TXA2] and prostacyclin 12 [PGI2] levels were evaluated in these cases in comparison to 20 healthy control subjects. The effect of steroid therapy on the above mentioned parameters was also evaluated. The results revealed that urinary nitrite level was significantly elevated among patients compared to control. The elevation was observed in diabetic nephropathy as well as proliferative forms of glomerular disease such as lupus nephritis and mesangioproliferative GN. However, plasma nitrite, nitrate and serum cGMP levels were similar in patients compared to the control levels. TXA2 level exhibited significant elevation in patients, whereas serum PGI2 showed significant decrease in its level among cases as compared to control subjects. Steroid therapy was demonstrated to have no effect on all of the studied parameters. The study concluded that the data indicated that NO might play a role in the pathogenesis of proliferative glomerular disease and diabetic nephropathy. The demonstration of normal level of urinary nitrite in non proliferative GN suggests that enhanced NO production is not the sole cause of proteinuria in these cases. Further studies are, therefore, needed to examine the exact role of NO in pathogenesis of glomerular injury. The significant elevation of TXA2 level together with the significant decrease in serum PGI2 should be thoroughly investigated regarding the renal hemodynamics, the extent of proteinuria and the thromboembolic tendency reported in these cases