KEY WORDS: Celiac disease; Abdomen; Bezoars; Trichotillomania; Depression

Background/Aims: Pediatric intestinal pseudo-obstruction (PIPO) is a severe disorder of gut motility. In this rare and difficult-to-manage disease, complex treatment method, such as intestinal transplantation, is sometimes needed. This study evaluated the management and follow-up results of patients with PIPO who received treatment at our center. Materials and Methods: The cases of 13 patients with PIPO were reviewed retrospectively. Demographic data, clinical features, etiologies, pharmacological and surgical treatments, nutritional support, anthropometric findings, small bowel transplantation (SBT), and survival rates were assessed. Results: Two of the patients were diagnosed at 1 and 5 years of age, while other patients were diagnosed during neonatal period. The etiological cause could not be identified for 5 patients. Pharmacological treatment response was observed in 38.4% of patients. Post-pyloric feeding was applied in 4 patients, but no response was observed. Gastrostomy decreased the clinical symptoms in 3 patients during the abdominal distension period. Total oral nutrition was achieved in 38.4% of the total-parenteral-nutrition (TPN)-dependent patients. It was observed that anthropometric findings improved in patients with total oral nutrition. Liver cirrhosis developed in 1 patient. Venous thrombosis developed in 4 patients. The SBT was performed on 3 patients. One of these patients has been followed up for the last 4 years. Conclusion: Pediatric intestinal pseudo-obstruction is a rare disease that can present with a wide range of clinical symptoms. While some patients require intestinal transplantation, supportive care may be sufficient in others. For this reason, patients with PIPO should be managed individually. Cite this article as: Çağan Appak Y, Baran M, Öztan MO, et al. Assessment and outcome of pediatric intestinal pseudo-obstruction: A tertiary-care-center experience from Turkey. Turk J Gastroenterol 2019; 30(4): 357-63.

Purpose: Alpha-1 antitrypsin deficiency (A1ATD) in one of the most common genetic causes of liver disease in children. We aimed to analyze the clinical characteristics and outcomes of patients with A1ATD. Methods: This study included patients with A1ATD from five pediatric hepatology units. Demographics, clinical findings, genetics, and outcome of the patients were recorded (n=25). Results: Eight patients (32.0%) had homozygous PiZZ genotype while 17 (68.0%) had heterozygous genotype. Patients with PiZZ genotype had lower alpha-1 antitrypsin levels than patients with PiMZ genotype (37.6 +/- 7.7 mg/dL vs. 66.5 +/- 22.7 mg/dL, p=0.0001). Patients with PiZZ genotype were diagnosed earlier than patients with PiMZ genotype, but this was not significant (13 +/- 6.8 months vs. 23.7 +/- 30.1 months, p=0.192). Follow-up revealed the death of one patient (12.5%) with a homozygous mutation, and revealed that one patient had child A cirrhosis, five patients (62.5%) had chronic hepatitis, and one patient (12.5%) was asymptomatic. Nine of the 17 patients with a heterozygous mutation had chronic hepatitis (52.9%), two (11.7%) had child A cirrhosis, and six (35.2%) were asymptomatic. Overall, 18 (72%) of the 25 children had liver pathology in the long-term. Conclusion: Although prevalence is rare, patients with liver disorders should be checked for alpha-1 antitrypsin levels. Moreover, long-term follow-up is essential because most patients have a liver pathology.

Background/Aims: Small bowel transplantation (SBTx) is a treatment option for patients with serious parenteral nutrition-related problems in intestinal failure. İzmir Tepecik Training Research Hospital Organ Transplantation Center is still the only pediatric intestinal transplant center in Turkey. Materials and Methods: This study was approved by the local ethics committee. Patients’ data were analyzed from the medical charts and the hospital digital database. Seven isolated SBTxs were performed in six children between 2010 and 2016. Results: One jejunal segment and six partial jejuno-ileal segments were used for seven transplants. All grafts were retrieved from deceased donors (one child and six adult donors). The six recipients had a mean age of 8.8±6.9 years (9 months to 17 years; M: 4, F: 2). The mean follow-up period of patients was 727±848 (34 to 1950) days. Acute cellular rejection (ACR) rates were 57% (n: 4) in the first 2 months. Graft loss due to severe ACR was seen in one patient. Central line-associated fungal (n: 3, 42%) and bacterial infections (n: 3, 42%) were seen in the first 2 months. Two Epstein-Barr virus (EBV) infections were recorded between 3 and 8 months in two patients. Our 1-year patient and graft survival rates were 71% and 71%, respectively. Conclusion: SBTx has become a treatment modality for patients with intestinal failures. Management of ACR and infections are still challenging problems in SBTx. Appropriate-sized cadaveric donors are very limited in Turkey for pediatric intestinal transplantation candidates. Although the number of SBTxs performed was small, this study shows promising results.

Renal–hepatic–pancreatic dysplasia-1 (RHPD1) is an ultra-rare genetic disorder with a high mortality. It is caused by biallelic pathogenic variants in NPHP3, which encode nephrocytin, an important component of the ciliary protein complex. The NPHP3-related disease phenotype is diverse with RHPD1, nephronophthisis-3, and Meckel syndrome-7. In this case report, we present a female infant with hepatomegaly, cholestasis, and elevated transaminases who was found to carry a homozygous c.2975C > T variant of NPHP3. This is the first description of this genotype and RHPD1 phenotype in the literature. The patient is currently being closely monitored for the necessity of combined renal and liver transplantation under supportive treatment.