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

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Abstract

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 ultrasound that revealed increased echogenicity in the kidney pyramids suggestive of medullary NC. At the age of 18 months, imaging findings revealed not only hyperechogenicity in the medulla but also in the cortex. Over the course of a long follow-up, her kidneys maintained size within the upper limits but showed an increase by age 7. Genetic analysis identified PKHD1 variants, which required structural predictive tools to guide clinical diagnosis. Until the age of 7, her kidney function has remained intact; however, her prognosis is uncertain.

Conclusions

NC in newborns is a rare condition, 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 clinical supervision and facilitates counseling to support family planning decisions.

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Data availability

The data supporting the findings of this clinical case are available upon justified request. For inquiries regarding more information, interested parties may contact Paola Krall at paola.krall@uchile.cl. We are committed to transparency and facilitating further research endeavors.

References

  1. Rodriguez Cuellar CI, Wang PZT, Freundlich M, Filler G (2020) Educational review: role of the pediatric nephrologists in the work-up and management of kidney stones. Pediatr Nephrol 35:383–397. https://doi.org/10.1007/s00467-018-4179-9

    Article  PubMed  Google Scholar 

  2. Letavernier E, Schwoehrer M, Livrozet M, Saint-Jacques C, Raymond L, Saraeva R, Haymann JP, Frochot V, Daudon M, Mesnard L (2021) Atypical clinical presentation of autosomal recessive polycystic kidney mimicking medullary sponge kidney disease. Kidney Int Rep 7:916–919. https://doi.org/10.1016/j.ekir.2021.11.035

    Article  PubMed  PubMed Central  Google Scholar 

  3. Gunay-Aygun M, Turkbey BI, Bryant J, Daryanani KT, Gerstein MT, Piwnica-Worms K, Choyke P, Heller T, Gahl WA (2011) Hepatorenal findings in obligate heterozygotes for autosomal recessive polycystic kidney disease. Mol Genet Metab 104:677–681. https://doi.org/10.1016/j.ymgme.2011.09.001

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  4. Shan D, Rezonzew G, Mullen S, Roye R, Zhou J, Chumley P, Revell DZ, Challa A, Kim H, Lockhart ME, Schoeb TR, Croyle MJ, Kesterson RA, Yoder BK, Guay-Woodford LM, Mrug M (2019) Heterozygous Pkhd1C642* mice develop cystic liver disease and proximal tubule ectasia that mimics radiographic signs of medullary sponge kidney. Am J Physiol Renal Physiol 316:F463–F472. https://doi.org/10.1152/ajprenal.00181.2018

    Article  PubMed  PubMed Central  Google Scholar 

  5. Cheungpasitporn W, Thongprayoon C, Brabec BA, Kittanamongkolchai W, Erickson SB (2016) Outcomes of living kidney donors with medullary sponge kidney. Clin Kidney J 9:866–870. https://doi.org/10.1093/ckj/sfv107

    Article  PubMed  Google Scholar 

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Author information

Authors and Affiliations

  1. Instituto de Medicina, Facultad de Medicina, Universidad Austral de Chile, Valdivia, Chile

    Paola Krall

  2. Departamento de Pediatría y Cirugía Infantil, Facultad de Medicina, Universidad de Chile, Santiago, Chile

    Paola Krall & Carla Gálvez

  3. Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos, Universidad de Chile, Santiago, Chile

    Víctor Faundes

  4. Departamento de Pediatría, Clínica Alemana de Santiago, Santiago, Chile

    Carla Gálvez & Felipe Cavagnaro

  5. Facultad de Medicina, Clínica Alemana-Universidad del Desarrollo, Santiago, Chile

    Felipe Cavagnaro

Authors
  1. Paola Krall
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  2. Víctor Faundes
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  3. Carla Gálvez
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  4. Felipe Cavagnaro
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Corresponding author

Correspondence to Paola Krall.

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The patient’s legal guardians, represented by her parents, have provided consent to publish the clinical and genetic data.

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The authors declare no competing interests.

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Krall, P., Faundes, V., Gálvez, C. et al. A case of diffuse kidney hyperechogenicity in early childhood associated with biallelic PKHD1 variants. Pediatr Nephrol (2024). https://doi.org/10.1007/s00467-024-06348-y

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  • DOI: https://doi.org/10.1007/s00467-024-06348-y

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