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A case report of autosomal recessive polycystic kidney disease with noncompaction of ventricular myocardium: coincidence or different manifestations of ciliopathy?
Zhou, Weiran; Du, Qingxia; Liu, Qinghua; Liu, Xiaofang; Li, Lei; Zhang, Hongxia.
Afiliación
  • Zhou W; Department of Pediatric Nephrology and Rheumatism and Immunology, Children's Hospital Affiliated to Shandong University, Jinan, Shandong Province, China.
  • Du Q; Department of Pediatric Nephrology and Rheumatism and Immunology, Jinan Children's Hospital, Jinan, Shandong Province, China.
  • Liu Q; Department of Cardiovascular Medicine, Children's Hospital Affiliated to Shandong University, Jinan, Shandong Province, China. 459076541@qq.com.
  • Liu X; Department of Ultrasonography, Children's Hospital Affiliated to Shandong University, Jinan, Shandong Province, China.
  • Li L; Department of Ultrasonography, Children's Hospital Affiliated to Shandong University, Jinan, Shandong Province, China.
  • Zhang H; Department of Cardiovascular Medicine, Children's Hospital Affiliated to Shandong University, Jinan, Shandong Province, China.
BMC Nephrol ; 25(1): 209, 2024 Jun 25.
Article en En | MEDLINE | ID: mdl-38918687
ABSTRACT

BACKGROUND:

Autosomal recessive polycystic kidney disease (ARPKD) is a rare inherited cystic disease characterized by bilateral renal cyst formation and congenital liver fibrosis. Cardiovascular disorders such as noncompaction of ventricular myocardium (NVM) have not been reported with ARPKD. CASE PRESENTATION A 5-month-old girl was examined after presenting with a fever and turbid urine for one day and was diagnosed as urinary tract infection. Urinary ultrasound showed multiple round, small cysts varying in size in both kidneys. Genetic testing revealed two heterozygous mutations and one exon deletion in the polycystic kidney and hepatic disease 1 gene, indicating a diagnosis of ARPKD. During hospitalization, she was found to have chronic heart failure after respiratory tract infection, with an ejection fraction of 29% and fraction shortening of 13%. When the patient was 15 months old, it was found that she had prominent trabeculations and deep intertrabecular recesses with the appearance of blood flow from the ventricular cavity into the intertrabecular recesses by echocardiography. The noncompaction myocardium was 0.716 cm and compaction myocardium was 0.221 cm (N/C = 3.27), indicating a diagnosis of NVM. Liver and kidney function remained normal during four-year follow-up.

CONCLUSIONS:

This is the first report of NVM in a patient with ARPKD. It is unsure if the coexistence of NVM and ARPKD is a coincidence or they are different manifestations of ciliary dysfunction in the heart and kidneys.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Riñón Poliquístico Autosómico Recesivo Límite: Female / Humans / Infant Idioma: En Revista: BMC Nephrol Asunto de la revista: NEFROLOGIA Año: 2024 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Riñón Poliquístico Autosómico Recesivo Límite: Female / Humans / Infant Idioma: En Revista: BMC Nephrol Asunto de la revista: NEFROLOGIA Año: 2024 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido