Human leukocyte antigen association with familial steroid-sensitive nephrotic syndrome.

Steroid-sensitive nephrotic syndrome (SSNS) is the most common form of nephrotic syndrome in childhood. Cases with the familial occurrence of SSNS suggest that genetics may play a role in the disease. Human leucocyte antigen (HLA) alleles have been associated with SSNS. We present genetic findings in nine families (44 participants), each with at least two affected siblings. A total of 19 patients were affected with familial SSNS. Six of nine families showed linkage to markers on chromosome 6p (27.29-33.97 Mbp) (Hg19), especially to markers D6S1629 and D6S1560 on HLA dense region in this location. Interestingly, we also found linkage of disease phenotype of familial SSNS on chromosome 15 (91.7-96.9 Mbp) (Hg19) with a logarithm of odds (LOD) score Z = 3.02.Conclusion: Our findings confirm the linkage of HLA markers on chromosome 6, which strengthens the association of HLA alleles in SSNS. What is Known: • Human leukocyte antigen (HLA) alleles have been associated with idiopathic steroid-sensitive nephrotic syndrome (SSNS). Only few studies have investigated the association between HLA alleles and familial SSNS. What is New: • We present evidence of linkage of familial SSNS to chromosome 6p (27.29-33.97 Mbp) (Hg19), especially to markers D6S1629 and D6S1560 on HLA dense region in this location. We also found linkage of the disease phenotype of familial SSNS on chromosome 15 (91.7-96.9 Mbp) (Hg19) with a logarithm of odds (LOD) score of Z = 3.02 following autosomal recessive inheritance pattern.

Childhood onset steroid-sensitive nephrotic syndrome continues into adulthood.

BACKGROUND: Childhood steroid-sensitive nephrotic syndrome (SSNS) has previously been assumed to be a disease of childhood. This has been challenged by few studies reporting that some patients with childhood SSNS may continue to relapse into adulthood. The aim of this study was to investigate the long-term outcome of childhood SSNS presenting data from an unselected well-defined cohort of Danish patients. METHODS: We conducted a retrospective study of the clinical outcome from a population of patients consecutively admitted to the pediatric departments in the central and northern region of Denmark from 1998 to 2015. Patients were followed until August 2017. Data were collected from the patient's medical records. RESULTS: Long-term outcome was studied in 39 adult patients with childhood onset SSNS. A total of 31% (12/39) had active disease in adulthood. Univariate analysis showed that more severe forms of SSNS (e.g., steroid dependent/frequent relapsing (SD/FR) nephrotic syndrome) in childhood were associated with active disease in adulthood. Comparing adult patients with SD/FR showed a significantly higher number of relapses/patient/year from late childhood and adolescence in the group with active disease vs. non-active disease (1.06 (95%CI: 0.32-1.81) vs. 0.19 (95%CI: 0.06-0.31, p = 0.005). CONCLUSION: In general, one third of all patients with SSNS during childhood continue to have active disease during early adulthood, in particular patients with SD/FR continue to suffer from active disease. The present data illustrates that SSNS is not just a disease of childhood but persists in adulthood in a significant number of patients.

Moody Mares-Is Ovariectomy a Solution?

Unwanted behaviour in mares is a commonly presenting problem to the veterinarian. This behaviour may range from the mare being uncooperative or aggressive when handled on the ground, kicking, bucking or rearing when ridden or being aggressive towards other horses. This purpose of the study was to evaluate whether bilateral ovariectomy in mares with unwanted behaviour improved the mare's behaviour and/or rideability from the owner's perspective. The mares were grouped and compared statistically based on their histological classification as having either "normal" or neoplastic ovaries. This study is a retrospective case series report of twenty-eight ovariectomized mares. A semi-quantitative value (1-10) pre- and post-ovariectomy for A) behaviour on ground/in stable and B) rideability was given, based on the owner's observations. The horses were grouped based on their histopathologic diagnosis as "Normal ovaries" or "Neoplasia". Following ovariectomy, rideability improved, with a score of ≥5 in 80% (8/10) of mares with normal ovaries and in 57% (8/14) of mares with ovarian neoplasm. A behavioural improvement of ≥5 was observed in 40% (4/10) of mares with normal ovaries, and in 43% (6/14) of mares with ovarian neoplasm. A significant difference was observed between the semi-quantitative value pre- and post-ovariectomy in both groups. No difference was observed in change in behaviour and rideability score between the group with normal ovaries and neoplastic ovaries. Mares with unwanted behaviour not obviously related to the oestrus cycle and to painful conditions may benefit from ovariectomy to alter their behaviour and rideability.