Sheffield Children's NHS Foundation Trust

X-linked agammaglobulinaemia (XLA), caused by mutations in BTK, is characterised by low or absent peripheral CD19 + B lymphocytes and agammaglobulinaemia. The mainstay of treatment consists of immunoglobulin replacement therapy (IgRT). As this cannot fully compensate for the immune defects in XLA, patients may therefore continue to be at risk of complications.

To describe the clinical outcomes of XLA patients in the United Kingdom and Hong Kong and evaluate current treatment strategies.

Patients with a definitive diagnosis of XLA were included in this cross-sectional and retrospective analysis of clinical health outcomes. Data pertaining to diagnosis, infection incidence, IgG trough levels and lung function were collected and analysed.

99 patients with a median age of 29.02 years (IQR 12.83-37.41) and a total follow up of 1922 patient years, were included this study. The median age at diagnosis was 3.30 years (IQR 1.04-8.38) which decreased over time (p = 0.004). 40% of the cohort had radiological evidence of bronchiectasis. Risk of bronchiectasis was not significantly associated with clinical infection incidence (p = 0.880) or IgG trough levels (p = 0.407). Two patients demonstrated novel complications, namely persistent norovirus infection, leading to haemopoietic stem cell transplantation (HSCT).

Despite modern therapy, most XLA patients continue to experience complications, most notably bronchiectasis, likely due to absence of IgA/M in current therapies, but lack of B lymphocytes may also lead to additional sequalae. These data strongly support the need for further research, particularly that of curative modalities including HSCT and gene therapy.

To assess outcomes of staged Fowler-Stephens orchidopexy (FSO) in management of intra-abdominal testes (IAT) in six paediatric tertiary centres in the UK.

Retrospective case note review for all patients undergoing open or laparoscopic staged FSO for IAT between January 2009 and March 2021 followed by at least one clinic visit in all six centres.

Across the six centres, 440 patients with IAT (298 unilateral, 74 bilateral) were identified, out of which 469 testes with complete records following 2 stage FSO were included in the study. Median follow-up was 17.2 Months (IQR 9-25 months). Testicular atrophy was documented at follow-up in 101 testes (22 %) with centre-specific atrophy rates ranging from 11 % to 37 %. 30 testes (6 %) re-ascended into the groin. Other reported complications included bladder injury (2 patients), ureteric injury (1 patient), external iliac vein injury (1 patient), inadvertent orchidectomy (3 patients), scrotal wound infection (5 patients), incisional hernia (1 patient) and port-site bleeding (1 patient).

Atrophy rates after staged FSO ranged from 11 % to 37 % across 6 paediatric surgery tertiary centres in the UK. Atrophy rates are higher than expected and a prospective study is warranted to compare FSO with alternative operative techniques such as gubernaculum-sparing and traction orchidopexy.