Background. Hydrochlorothiazide (HCT) is applied in the therapy of familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC) caused by claudin-16 (CLDN16) mutation. However, the shortterm efficacy of HCT to reduce hypercalciuria in FHHNC has not yet been demonstrated in a clinical trial. Methods. Four male and four female patients with FHHNC and CLDN16 mutation, under long-standing HCT therapy (0.4-1.2 mg/kg, median 0.9 mg/kg, dose according to calciuria), aged 0.7-22.4 years, were included in a clinical study to investigate the effect of HCT on calciuria. The study design consisted of three periods: continued therapy for 4 weeks, HCT withdrawal for 6 weeks and restart of therapy at the same dose for 4 weeks. Calciuria and magnesiuria were assessed weekly as Ca/creat and Mg/creat ratio, every 2 weeks in 24 h urine, and serum Mg, K and kaliuria (s-Mg, s-K and K/creat) at weeks 0, 6, 10 and 14. The data of each study period were averaged and analysed by Friedman and Wilcoxon test. Results. Ca/creat was significantly reduced by HCT (median before/at/after withdrawal 0.76/1.24/ 0.77 mol/mol creat; n ¼ 8, P<0.05). The reduction of Ca/24 h by HCT was not statistically significant (0.13/0.19/0.13 mmol/kg  24 h; n ¼ 5). Serum Mg (0.51/0.64/0.56 mmol/l; n ¼ 8, P<0.05) and Serum K (3.65/4.35/3.65 mmol/l; n ¼ 8, P<0.05) were significantly higher during withdrawal. However, Mg/creat (0.98/0.90/0.90 mol/mol creat; n ¼ 8), Mg/24 h (0.14/0.12/0.18 mmol/kg  24h; n ¼ 5) and K/creat (6.3/8.4/6.2 mol/mol creat; n ¼ 8) remained statistically unchanged during withdrawal. Conclusions. We demonstrated that HCT is effective in reducing hypercalciuria due to CLDN16 mutation on a short-term basis. However, the efficacy of HCT to attenuate disease progression remains to be elucidated.

The authors describe a young boy with juvenile myelomonocytic leukemia (JMML) who relapsed 45 days after HLA and killer immunoglobulin-like receptor (KIR) mismatched unrelated donor bone marrow transplant (MMUD-BMT) and subsequently developed life-threatening graft-versus-host disease (GvHD). Treatment with 6-mercaptopurine (6-MP) appeared to control severe GvHD and possibly prevented recurrence of leukemic relapse.

Background: Data on the end-of-life phase of children receiving palliative care are limited. The purpose of this study is to investigate the spectrum of symptoms of terminally ill children, adolescents, and young adults, depending on their underlying disease. Methods: Findings are based on a 4.5-year retrospective study of 89 children who received palliative care before they died, investigating the symptomatology of the last two weeks before death. Results: In this study, the most common clinical symptomatology present in children undergoing end-of-life care includes pain, shortness of breath, anxiety, nausea, and constipation. Out of 89 patients included in this study, 47% suffered from an oncological disease. Oncological patients had a significantly higher symptom burden at the end of life (p < 0.05) compared to other groups, and the intensity of symptoms increased as the underlying disease progressed. The likelihood of experiencing pain and nausea/vomiting was also significantly higher in oncological patients (p = 0.016). Conclusions: We found that the underlying disease is associated with marked differences in the respective leading clinical symptom. Therefore, related to these differences, symptom management has to be adjusted according to the underlying disease, since the underlying disorder seems to exert an influence on the severity of symptoms and thereby on the modality and choice of treatment. This study is intended to aid underlying disease-specific symptom management at the end-of-life care for children, adolescents, and young adults, with a specific focus on end-of-life care in a home environment.

As part of the 2007 health reform in Germany the structure of outpatient palliative care for children and adolescents was adopted for the first time and then implemented in Erlangen-Nuremberg in 2009. The introduction of Pediatric Palliative Home Care (PPHC) at the Hospital for Children and Adolescents at the University of Erlangen-Nuremberg was retrospectively analyzed between the years 2009 to 2014. Referring medical records (paper-based and electronic) were evaluated systematically. Considering 69 patients within this study, 44 (63.8%) died during the investigated period and 61% of these Patients deceased at home. 60 patients (87%) had a written emergency plan, which was jointly developed with patients and particularly their parents and relatives in cooperation with the PPHC team. Over the years and with increasing experience, the number and duration of emergency hospitalization decreased. Even complex therapies, such as patient-controlled analgesia with PCA pump could be implemented on an outpatient basis. The descriptive cohort study demonstrates that palliative care for children, despite the medical and structural complexity is possible in an ambulatory setting. It allows a similar, if not better care, compared to inpatient palliative care for children and adolescents, not only for the affected patients, but also for their families.