Primary hyperoxaluria in infants

المؤلفون المشاركون

Jellouli, Manel
Firjani, Maryam
Abidi, Kamil
Zarruq, Shukri
Naija, Ouns
Abd al-Mawla, J.
Gargah, Tahar

المصدر

Saudi Journal of Kidney Diseases and Transplantation

العدد

المجلد 27، العدد 3 (30 يونيو/حزيران 2016)، ص ص. 526-532، 7ص.

الناشر

المركز السعودي لزراعة الأعضاء

تاريخ النشر

2016-06-30

دولة النشر

السعودية

عدد الصفحات

7

التخصصات الرئيسية

الطب البشري

الموضوعات

الملخص EN

The infantile form of primary hyperoxaluria type-1 (PH-1) is characterized by a rapid progression to the end-stage renal disease (ESRD) due to both increased oxalate load and reduced glomerular filtration rate.

In the literature, data on this form are limited.

The purpose of this study is to analyze retrospectively the clinical, biological, and radiological features of children who were diagnosed with PH-1 during the 1st year of life.

We reviewed the records of all children with PH-1 diagnosed and followed-up at our department between January 1995 and December 2013.

Among them, only infants younger than 12 months of age were retrospectively enrolled in the study.

Fourteen infants with the median age of two months were enrolled in the study.

At diagnosis, 11 patients had ESRD.

All patients had nephrocalcinosis and two of them had calculi.

The diagnosis was established in nine patients on the basis of the positive family history of PH-1, bilateral nephrocalcinosis, and quantitative crystalluria.

In four patients, the diagnosis was made with molecular analysis of DNA.

Kidney biopsy contributed to the diagnosis in one patient.

During follow-up, two patients were pyridoxine sensitive and preserved renal function.

Seven among 11 patients who had ESRD died, four patients are currently undergoing peritoneal dialysis.

Children with infantile PH and ESRD are at high risk of early death.

Peritoneal dialysis is not a treatment of choice.

Combined liver-kidney transplantation is mandatory.

نمط استشهاد جمعية علماء النفس الأمريكية (APA)

Jellouli, Manel& Firjani, Maryam& Abidi, Kamil& Zarruq, Shukri& Naija, Ouns& Abd al-Mawla, J.…[et al.]. 2016. Primary hyperoxaluria in infants. Saudi Journal of Kidney Diseases and Transplantation،Vol. 27, no. 3, pp.526-532.
https://search.emarefa.net/detail/BIM-683622

نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)

Jellouli, Manel…[et al.]. Primary hyperoxaluria in infants. Saudi Journal of Kidney Diseases and Transplantation Vol. 27, no. 3 (May. / Jun. 2016), pp.526-532.
https://search.emarefa.net/detail/BIM-683622

نمط استشهاد الجمعية الطبية الأمريكية (AMA)

Jellouli, Manel& Firjani, Maryam& Abidi, Kamil& Zarruq, Shukri& Naija, Ouns& Abd al-Mawla, J.…[et al.]. Primary hyperoxaluria in infants. Saudi Journal of Kidney Diseases and Transplantation. 2016. Vol. 27, no. 3, pp.526-532.
https://search.emarefa.net/detail/BIM-683622

نوع البيانات

مقالات

لغة النص

الإنجليزية

الملاحظات

Includes bibliographical references : p. 531-532

رقم السجل

BIM-683622