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Unveiling atypical diagnoses: when whole-genome analysis performed for refractory infantile hypomagnesemia reveals primary hyperoxaluria.
Kayal, Dima; Vedrine, Enzo; Goursaud, Claire; Sellier-Leclerc, Anne-Laure; Acquaviva-Bourdain, Cécile; Bertholet-Thomas, Aurelia; Bacchetta, Justine.
Afiliação
  • Kayal D; Pediatric Nephrology Rheumatology Dermatology Unit, Reference Center for Rare Renal Diseases, ORKID and ERK-Net Networks, Lyon University Hospital, Bron, France. dima-kayal@hotmail.com.
  • Vedrine E; Hospital for Women Mothers Children: Hopital Femme Mere Enfant, Bron, France. dima-kayal@hotmail.com.
  • Goursaud C; Pediatric Nephrology Rheumatology Dermatology Unit, Reference Center for Rare Renal Diseases, ORKID and ERK-Net Networks, Lyon University Hospital, Bron, France.
  • Sellier-Leclerc AL; Unit of Molecular Biology and Biochemistry, Lyon University Hospital, Bron, France.
  • Acquaviva-Bourdain C; Unit of Molecular Biology and Biochemistry, Lyon University Hospital, Bron, France.
  • Bertholet-Thomas A; Consortium Auragen, LBMMS Auragen, Lyon, France.
  • Bacchetta J; Pediatric Nephrology Rheumatology Dermatology Unit, Reference Center for Rare Renal Diseases, ORKID and ERK-Net Networks, Lyon University Hospital, Bron, France.
Pediatr Nephrol ; 2024 Aug 01.
Article em En | MEDLINE | ID: mdl-39088056
ABSTRACT

BACKGROUND:

Genetic testing is increasingly recognized as crucial in inherited nephropathies. Here, we report on an atypical presentation of a complex tubulopathy that led to an unexpected diagnosis of primary hyperoxaluria type 1 (PH1). CASE DIAGNOSIS At 2 weeks of age, a premature boy with stunted growth was diagnosed with complex tubulopathy associating hyponatremia, hypokalemia, hypomagnesemia, hypophosphatemia, metabolic acidosis, and acute kidney injury. Despite electrolyte replacement, severe hypomagnesemia persisted while massive parallel sequencing of genes involved in hypomagnesemia yielded negative results, including HNF1ß. At 3 years of age, despite satisfactory growth, hypomagnesemia persisted and nephrocalcinosis appeared and progressed rapidly thereafter. Whole-genome analysis then revealed compound heterozygous mutations in the AGXT gene, thus leading to the diagnosis of PH1.

CONCLUSION:

Given the emergence of new targeted therapies, thorough genetic analysis including whole-genome analysis should be pursued, especially in case of atypical clinical presentation.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Pediatr Nephrol Assunto da revista: NEFROLOGIA / PEDIATRIA Ano de publicação: 2024 Tipo de documento: Article País de afiliação: França

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Pediatr Nephrol Assunto da revista: NEFROLOGIA / PEDIATRIA Ano de publicação: 2024 Tipo de documento: Article País de afiliação: França