Helicobacter cinaedi Bacteremia in Children: A Case Report and Literature Review.

Helicobacter cinaedi is known to cause invasive infections in immunocompromised adults. Here we report the first case of H. cinaedi bacteremia in a child with nephrotic syndrome.

Arginine depletion attenuates renal cystogenesis in tuberous sclerosis complex model.

Cystic kidney disease is a leading cause of morbidity in patients with tuberous sclerosis complex (TSC). We characterize the misregulated metabolic pathways using cell lines, a TSC mouse model, and human kidney sections. Our study reveals a substantial perturbation in the arginine biosynthesis pathway in TSC models with overexpression of argininosuccinate synthetase 1 (ASS1).

Estimated pediatric glomerular filtration rate presentation improves the detection rate of kidney impairment in children.

Background: Accurate interpretation of everyday laboratory work is crucial for the early detection of impaired kidney function. Bedside estimation of glomerular filtration rate (eGFR) in children is based on serum creatinine standardized for body mass, most commonly using the revised Schwartz equation using height. This study evaluates how data presentation affects the correct assessment of children's kidney function.

A multidisciplinary nephrogenetic referral clinic for children and adults-diagnostic achievements and insights.

Background: Genetic kidney diseases contribute a significant portion of kidney diseases in children and young adults. Nephrogenetics is a rapidly evolving subspecialty; however, in the clinical setting, increased use of genetic testing poses implementation challenges. Consequently, we established a national nephrogenetics clinic to apply a multidisciplinary model.

Increasing mTORC1 Pathway Activity or Methionine Supplementation during Pregnancy Reverses the Negative Effect of Maternal Malnutrition on the Developing Kidney.

Background: Low nephron number at birth is associated with a high risk of CKD in adulthood because nephrogenesis is completed . Poor intrauterine environment impairs nephron endowment an undefined molecular mechanism. A calorie-restricted diet (CRD) mouse model examined the effect of malnutrition during pregnancy on nephron progenitor cells (NPCs).

SENIOR-LØKEN SYNDROME: A Case Series and Review of the Renoretinal Phenotype and Advances of Molecular Diagnosis.

Purpose: To report genetic and clinical findings in a case series of 10 patients from eight unrelated families diagnosed with Senior-Løken syndrome.

Methods: A retrospective study of patients with Senior-Løken syndrome. Data collected included clinical findings electroretinography and ocular imaging.

Neuroblastoma Amplified Sequence Gene Mutations Inducing Acute Kidney and Liver Injury in an Adolescent Female.

Acute liver injury (ALI) in children is a life-threatening event, and a definitive etiology can be identified in approximately 50% of cases. Neuroblastoma amplified sequence (NBAS) gene mutations have been associated with a broad phenotypic spectrum of this disease, ranging from recurrent episodes of fever-induced liver injuries to multiorgan involvement, including frequent infections as well as skeletal and immunological abnormalities. Here, we describe an adolescent female with a confirmed compound heterozygous NBAS gene mutation who presented with an episode of ALI complicated by severe acute kidney injury (AKI).

Parathyroid Cell Proliferation in Secondary Hyperparathyroidism of Chronic Kidney Disease.

Secondary hyperparathyroidism (SHP) is a common complication of chronic kidney disease (CKD) that correlates with morbidity and mortality in uremic patients. It is characterized by high serum parathyroid hormone (PTH) levels and impaired bone and mineral metabolism. The main mechanisms underlying SHP are increased PTH biosynthesis and secretion as well as increased glandular mass.

Neonatal thrombotic microangiopathy secondary to factor I variant with Hirschsprung disease.

Neonatal thrombotic microangiopathy (TMA) is a rare and severe disease characterized by a triad of non-immune hemolytic anemia, thrombocytopenia, and organ dysfunction in neonates. We describe herein an early-term infant who underwent hemicolectomy at 4 days of age due to intestinal perforation. Following surgery, the patient had recurrent bouts of vomiting and abdominal distention, together with acute kidney injury, non-immune hemolytic anemia, and severe thrombocytopenia.

Rapamycin and dexamethasone during pregnancy prevent tuberous sclerosis complex-associated cystic kidney disease.

Chronic kidney disease is the main cause of mortality in patients with tuberous sclerosis complex (TSC) disease. The mechanisms underlying TSC cystic kidney disease remain unclear, with no available interventions to prevent cyst formation. Using targeted deletion of TSC1 in nephron progenitor cells, we showed that cysts in TSC1-null embryonic kidneys originate from injured proximal tubular cells with high mTOR complex 1 activity.

Kidney biopsy findings in children with sickle cell disease: a Midwest Pediatric Nephrology Consortium study.

Background: Renal damage is a progressive complication of sickle cell disease (SCD). Microalbuminuria is common in children with SCD, while a smaller number of children have more severe renal manifestations necessitating kidney biopsy. There is limited information on renal biopsy findings in children with SCD and subsequent management and outcome.

Pre-operative level of FGF23 predicts severe acute kidney injury after heart surgery in children.

Background: Early detection of acute kidney injury (AKI) after cardiac surgery has improved recently with the discovery and validation of novel urinary biomarkers. However, objective tools to predict the risk of AKI before the insult are still missing. We tested the hypothesis that pre-operative serum fibroblast growth factor 23 (FGF23) concentrations would be elevated in children who develop AKI after heart surgery with cardiopulmonary bypass (CPB).

Hamartin regulates cessation of mouse nephrogenesis independently of Mtor.

Nephrogenesis concludes by the 36th week of gestation in humans and by the third day of postnatal life in mice. Extending the nephrogenic period may reduce the onset of adult renal and cardiovascular disease associated with low nephron numbers. We conditionally deleted either or (coding for hamartin, an inhibitor of Mtor) in renal progenitor cells.

Early postoperative measurement of fibroblast growth factor 23 predicts severe acute kidney injury in infants after cardiac surgery .

Aims: Acute kidney injury (AKI) occurs in 30 - 40% of children after cardiac surgery (CS) and is associated with poor prognosis. Fibroblast growth factor 23 (FGF23) is a bone-derived hormone with a pivotal role in phosphorus and vitamin D metabolism. We assessed FGF23 as an early marker for severe AKI (sAKI) in infants after CS.

Making new kidneys: On the road from science fiction to science fact.

Purpose Of Review: Allogenic kidney transplantation use is limited because of a shortage of kidney organ donors and the risks associated with a long-term immunosuppression. An emerging treatment prospect is autologous transplants of ex vivo produced human kidneys. Here we will review the research advances in this area.

Vitamin D inhibits development of liver fibrosis in an animal model but cannot ameliorate established cirrhosis.

1,25(OH)2D3, the active form of vitamin D, has an antiproliferative and antifibrotic effect on hepatic stellate cells. Our aim was to investigate the potential of 1,25(OH)2D3 to inhibit the development of liver fibrosis and to ameliorate established fibrosis in vivo. The antifibrotic effect of 1,25(OH)2D3 was investigated in a thioacetamide (TAA) model (as a preventive treatment and as a remedial treatment) and in a bile duct ligation model.

Appendicular foreign body: patience needed.

A 7-year-old boy was referred to the emergency room following ingestion of a metal coil. A plain abdominal radiograph demonstrated the presence of the coil in the right lower quadrant. The child had no clinical symptoms.

Fatty liver disease in obese children--relation to other metabolic risk factors.

Liver steatosis, known as non-alcoholic fatty liver disease (NAFLD) is common among obese children. Deposition of lipid within the liver represents part of an abnormal lipid partitioning pattern, most commonly associated with increased intra-abdominal fat. Lipid deposition in the liver can be a cause of peripheral insulin resistance via local acceleration of lipogenesis and a cause of hepatic insulin resistance leading to further compensatory hyperinsulinemia.