Neonatal renal cystic diseases

Khare, Anshika; Krishnappa, Vinod; Kumar, Deepak; Raina, Rupesh

doi:10.1080/14767058.2017.1358263

Cited by 13 publications

(22 citation statements)

References 19 publications

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“…Even second trimester fetal US often fails to detect enlargement and/or increased echogenicity of both kidneys [10,14], and oligohydramnios may be the only sign of the disease, as occurred in the present patient. Newborns with perinatally diagnosed massive renal enlargement have a poor prognosis, and usually die of respiratory problems within the first days of life [2,15,16].…”

Section: Discussionmentioning

confidence: 99%

Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome

Serra¹,

Corsello²,

Antona³

et al. 2020

Ital J Pediatr

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Introduction Autosomal 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. Conclusions This 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.

show abstract

Section: Discussionmentioning

confidence: 99%

Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome

Serra¹,

Corsello²,

Antona³

et al. 2020

Ital J Pediatr

View full text Add to dashboard Cite

show abstract

Section: Discussionmentioning

confidence: 99%

Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome

Serra¹,

Corsello²,

Antona³

et al. 2020

Preprint

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Introduction: Autosomal 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. Conclusions: This 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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“…Most cases are sporadic, but familial cases have been described [60,61]. The two forms of MCDK include the pelvoinfundibular type (common) and the hydronephrotic type (uncommon) [60].…”

Section: A C C E P T E D a R T I C L Ementioning

confidence: 99%

Approach to the postnatal sonographic evaluation of prenatally detected abdominopelvic cysts

Muthee

Bray

2022

Ultrasonography

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Prenatally detected abdominal and pelvic masses are commonly cystic in morphology and usually seen at mid-trimester sonography. Sonography is the favored imaging modality for postnatal evaluation of these lesions in newborns, given the availability, low cost, lack of ionizing radiation, lack of sedation, and high spatial resolution in small patients. The differential diagnosis of abdominopelvic cystic masses in the newborn is broad given that they can arise from many organs and may have overlapping features on imaging. This article illustrates an approach to the postnatal sonographic evaluation of prenatally detected cystic abdominal and pelvic masses based on their anatomic location as well as distinctive sonographic characteristics, which can aid in accurate diagnosis and guide appropriate management.

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Neonatal renal cystic diseases

Cited by 13 publications

References 19 publications

Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome

Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome

Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome

Approach to the postnatal sonographic evaluation of prenatally detected abdominopelvic cysts

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