ArticleItalian journal of pediatrics2020
Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome.
Article in Italian journal of pediatrics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.
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Who cites it
33 citing papers in PubMed, 1 synthesis or guideline pooled it.
- SARS-CoV-2 infection during pregnancy and necrotizing enterocolitis: case report and review of the literature.Italian journal of pediatrics · 2025Pooled it
- Comparison of different methods for reducing pain during a heel lance in newborns: a randomized trial.Italian journal of pediatrics · 2025Trial
- MIS-C, inherited metabolic diseases and methylmalonic acidemia: a case report and review of the literature.Italian journal of pediatrics · 2025Review
- A novel variant in NPR2: C.2291T > C (p.Leu764Pro) identified in a patient with acromesomelic dysplasia Maroteaux type.Italian journal of pediatrics · 2025Article
- Continuous renal replacement therapy in extremely low birth weight infants: a series of 5 cases.Italian journal of pediatrics · 2025Article
- Novel compound heterozygous OBSCN variants in Chinese children with congenital pulmonary airway malformation.Italian journal of pediatrics · 2025Article
- Newborn screening of primary carnitine deficiency: clinical and molecular genetic characteristics.Italian journal of pediatrics · 2025Article
- A missense mutation in PDHB gene: identification of the patient with pyruvate dehydrogenase deficiency and demonstration of pathogenicity in vitro.Italian journal of pediatrics · 2025Article
- Evaluation of uNGAL and TIMP-2*IGFBP7 as early biomarkers of Acute Kidney Injury in Caucasian term and preterm neonates: a prospective observational cohort study.Italian journal of pediatrics · 2025Observational
- KBG syndrome: report and follow-up on three unrelated patients observed at different ages.Italian journal of pediatrics · 2025Article
- A novel KDM5C mutation associated with intellectual disability: molecular mechanisms and clinical implications.Italian journal of pediatrics · 2025Article
- Identification of Houge type of X-linked syndromic mental retardation caused by CNKSR2 truncated variants.Italian journal of pediatrics · 2025Article
- Identification of novel RIPK4 variants in a Chinese patient with Arthrogryposis Multiplex Congenita (AMC).Italian journal of pediatrics · 2025Article
- Reactive Oxygen Species in Cystic Kidney Disease.Antioxidants (Basel, Switzerland) · 2024Review
- Mutations in the NUP93, NUP107 and NUP160 genes cause steroid-resistant nephrotic syndrome in Chinese children.Italian journal of pediatrics · 2024Article
- Report and follow-up on two new patients with congenital mesoblastic nephroma.Italian journal of pediatrics · 2023Article
- New insights on partial trisomy 3q syndrome: de novo 3q27.1-q29 duplication in a newborn with pre and postnatal overgrowth and assisted reproductive conception.Italian journal of pediatrics · 2023Article
- Intestinal malrotation in a female newborn affected by Osteopathia Striata with Cranial Sclerosis due to a de novo heterozygous nonsense mutation of the AMER1 gene.Italian journal of pediatrics · 2022Article
- Congenital syphilis in a preterm newborn with gastrointestinal disorders and postnatal growth restriction.Italian journal of pediatrics · 2022Article
- Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome.Italian journal of pediatrics · 2022Article
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9 authors.
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Abstract
introductionAutosomal recessive polycystic kidney disease (ARPKD; MIM#263200) is one of the most frequent pediatric renal cystic diseases, with an incidence of 1:20,000. It is caused by mutations of the PKHD1 gene, on chromosome 6p12. The clinical spectrum is highly variable, ranging from late-onset milder forms to severe perinatal manifestations. The management of newborns with severe pulmonary insufficiency is challenging, and causes of early death are sepsis or respiratory failure. In cases of massive renal enlargement, early bilateral nephrectomy and peritoneal dialysis may reduce infant mortality. However, there is no conclusive data on the role of surgery, and decision-making is driven by patient's clinical condition and expertise of the center. PATIENT PRESENTATION: We hereby describe a preterm female newborn with perinatal, rapid and bilateral, abnormal growth of both kidneys, respiratory failure and initial signs of liver disease. She was subsequently confirmed to be affected by a rare and severe homozygous mutation of the PKHD1 gene, inherited from both her consanguineous parents. Our patient died 78 days after birth, due to a fungal sepsis which worsened her respiratory insufficiency.
conclusionsThis patient report shows some of the clinical and ethical issues of neonatal ARPKD, and the need of multidisciplinary approach and good communication with the family. Target next generation sequencing (NGS) techniques may guide and support clinicians, as well as guarantee to these patients the most appropriate clinical management, avoiding unnecessary and/or disproportionate treatments.
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