Atypical Clinical Presentation of Autosomal Recessive Polycystic Kidney Mimicking Medullary Sponge Kidney Disease

Letavernier, Emmanuel; Schwoehrer, Madeline; Livrozet, Marine; Saint-Jacques, Camille; Raymond, Laure; Saraeva, Radoslava; Haymann, Jean‐Philippe; Frochot, Vincent; Daudon, Michel; Mesnard, Laurent

doi:10.1016/j.ekir.2021.11.035

Cited by 6 publications

(1 citation statement)

References 8 publications

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“…The variants found in these MSK cases had previously been independently reported in autosomal recessive polycystic kidney disease (ARPKD) patients [Letavernier et al, 2021].…”

Section: Discussionmentioning

confidence: 62%

Bilateral nephrocalcinosis: an unusual presentation in early childhood with PKHD1 biallelic inheritance

Krall,

Faúndes,

Galvez

et al. 2023

Preprint

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Background: Nephrocalcinosis (NC) is characterized by an excessive accumulation of calcium deposits in the kidneys. In children, it is often incidentally discovered with an uncertain prognosis. Case-diagnosis/treatment: A 3-month-old girl suspected to have a milk protein allergy underwent an abdominal ultrasound that revealed increased echogenicity in the renal pyramids. Over the course of a 5-year follow-up, her kidneys maintained size within the upper limits, and echographies suggested medical nephropathy. By age 6, imaging findings were consistent with medullary NC. Further analysis identified PKHD1variants, which required bioinformatic tools to guide diagnosis. Until the age of 7, her kidney function has remained intact; however, her prognosis is uncertain. Conclusions: NC in newborns is rare, but its incidence is rising. Recurrent urinary infections or kidney stones may lead to kidney failure. A proactive approach in sporadic NC enables an early diagnosis to orientate nephrological supervision and facilitates counseling to support family planning decisions.

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“…The variants found in these MSK cases had previously been independently reported in autosomal recessive polycystic kidney disease (ARPKD) patients [Letavernier et al, 2021].…”

Section: Discussionmentioning

confidence: 62%

Bilateral nephrocalcinosis: an unusual presentation in early childhood with PKHD1 biallelic inheritance

Krall,

Faúndes,

Galvez

et al. 2023

Preprint

View full text Add to dashboard Cite

show abstract

A case of diffuse kidney hyperechogenicity in early childhood associated with biallelic PKHD1 variants

Krall,

Faundes,

Gálvez

et al. 2024

Pediatr Nephrol

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Adult presentations of variable kidney and liver phenotypes secondary to biallelic PKHD1 pathogenic variants

2023

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The polycystic kidney and hepatic disease 1 (PKHD1) gene located on chromosome 6p12 encodes for a large transmembrane protein called fibrocystin. Biallelic pathogenic variants in this gene cause autosomal recessive polycystic kidney disease (ARPKD). ARPKD often leads to both early-onset polycystic kidney disease as well as congenital hepatic fibrosis. In addition to the early onset phenotypes, some patients present much later with adult-onset liver involvement which is often labeled as Caroli’s syndrome. The kidney phenotype can resemble medullary sponge kidney disease with nephrolithiasis as well as atypical cystic kidney disease. Here, we present two families, each with 2 affected siblings, where the presenting liver and kidney features were variable among the siblings, with presentations including late-onset liver phenotypes, kidney features which had been labeled as medullary sponge kidney, and cystic kidney disease. Molecular genetic investigations identified biallelic pathogenic variants in PKHD1 in the affected siblings, including a novel nonsense allele. These cases emphasize the adult-onset and variable and sometimes discordant phenotypes that may be observed with PKHD1 biallelic pathogenic variants.

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Atypical Clinical Presentation of Autosomal Recessive Polycystic Kidney Mimicking Medullary Sponge Kidney Disease

Cited by 6 publications

References 8 publications

Bilateral nephrocalcinosis: an unusual presentation in early childhood with PKHD1 biallelic inheritance

Bilateral nephrocalcinosis: an unusual presentation in early childhood with PKHD1 biallelic inheritance

A case of diffuse kidney hyperechogenicity in early childhood associated with biallelic PKHD1 variants

Adult presentations of variable kidney and liver phenotypes secondary to biallelic PKHD1 pathogenic variants

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