This study was conducted to test the hypothesis that analysis of HLA class II type alleles will give important information on the prognosis of NS in children. We prospectively studied 100 consecutive children with idiopathic nephrotic syndrome and 202 controls belonging to the same geoethnic background. Typing for HLA Class II alleles at DR and DQ locus was carried out by using SSP (sequence specific oligonucleotides based method). In our study children were more likely to have nephrotic syndrome if the allele DQ-beta1*020X was present as compared to controls. On the other hand, DR-beta1*1001, DR-beta1*130X and DQ-beta1*030X were significantly lower among patients and likely to be protective. On analysing the different steroid response categories, we observed that the allele DQ-beta1*020X was significantly higher in infrequent relapsers (IFR) with a high etiological fraction of 0.714. Children were more likely to be steroid resistant if the allele DR-beta1*150X was present and the etiological fraction was high (0.754). The allele DQ-beta1*030X was significantly lower in steroid resistant patients (p=0.019, RR=0.1819, 95% CI=0.04430-0.7471) and likely to be protective. On analysing the haplotype distribution, we observed that occurrence of DR-beta1*070X-DQ-beta1*020X haplotype was significantly more common among patients with steroid sensitive nephrotic syndrome (23.94%) as compared to controls (12.5%) (p=0.01). In the steroid resistant group we observed that the haplotype DR-beta1*150X-DQ-beta1*060X was significantly more frequent as compared to steroid sensitive patients as well as controls p=0.01. We conclude that HLA typing in Indian children with NS helps to predict relapse frequency and steroid resistance.

Cases with severe oligohydromnios with or without distended bladder, URSM sequence should be suspected, as this condition is usually lethal. Non-visualization of bladder, presence of hydronephrosis, multicystic kidneys or distended gut loops suggests the possibility of URSM sequence. The confirmation of diagnosis is possible after autopsy. Associated malformation of other organs and deformation due to oligohydromnios are commonly present.

In view of the paucity of deletion studies of survival of motor neuron (SMN) and neuronal apoptosis inhibitor protein (NAIP) genes in Indian SMA patients, this study has been undertaken to determine the status of SMN1, SMN2 and NAIP gene deletions in Indian SMA patients. Clinically and neurophysiologically diagnosed SMA patients were included in the study. A gene deletion study was carried out in 45 proximal SMA patients and 50 controls of the same ethnic group. Both SMN1 and NAIP genes showed homozygous absence in 76% and 31% respectively in proximal SMA patients. It is proposed that the lower deletion frequency of SMN1 gene in Indian patients may be due to mutations present in other genes or population variation, which need further study.

Further study of these two cases is needed in order to define other genotypes resulting in achondroplasia. Postnatal diagnosis of achondroplasia depends on clinical and radiological features. Mutation detection is mainly useful for prenatal diagnosis.

The reproductive decision was mainly correlating with the presence or absence of normal live children in the family and availability of prenatal diagnosis.