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Article

Renal-hepatic-pancreatic dysplasia-1 with a novel NPHP3 genotype: a case report and review of the literature.

BMC pediatrics - 18 Oct 2022

Zhu Hui, Zhao Zhi-Hui, Zhu Shu-Yao, Xiong Fu, He Li-Hong, Zhang Yong, Wang Jin

Abstract excerpt

BACKGROUND: Renal-hepatic-pancreatic dysplasia type 1 (RHPD1) is a rare sporadic and autosomal recessive disorder with unknown incidence. RHPD1 is caused by biallelic pathogenic variants in NPHP3, which encode nephrocystin, an important component of the ciliary protein complex. CASE PRESENTATION: In this case report, we describe a male newborn who was confirmed by ultrasound to have renal enlargement with...

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Identifiers

PMID: 36253741
DOI: 10.1186/s12887-022-03659-7
PMCID: PMC9578240

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