Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF) - more common than assumed? Report of four cases with transient NIHF and a review of the literature

نویسندگان

  • Catharina Whybra
  • Eugen Mengel
  • Alexandra Russo
  • Franz Bahlmann
  • Christoph Kampmann
  • Michael Beck
  • Elke Eich
  • Eva Mildenberger
چکیده

BACKGROUND Lysosomal storage disorders (LSD) are a rare cause of non immunological hydrops fetalis (NIHF) and congenital ascites. The reported incidence is about 1%. The incidence of idiopathic NIHF is estimated to be about 18%. PATIENTS AND METHODS We report four cases with transient hydrops fetalis resulting from LSD and performed a literature review on LSD with NIHF and congenital ascites in combination. RESULTS At present, 12 different LSDs are described to be associated with NIHF or congenital ascites. Most patients had a family history of NIHF, where the preceding sibling had not been examined. A diagnostic approach to the fetus with NIHF due to suspected LSD either in utero or postnatal is suggested. Transient forms of NIHF and/or ascites in association with MPS IVA, MPS VII and NPC are described for the first time in this publication. CONCLUSIONS LSD should be considered in transient hydrops. Enzymatic studies in chorionic villous sample or amniotic cultured cells, once the most common conditions associated with fetal ascites or hydrops have been ruled out, are important. This paper emphasizes the fact that LSD is significantly higher than the estimated 1% in previous studies, which is important for genetic counseling as there is a high risk of recurrence and the availability of enzyme replacement therapy for an increasing number of LSD.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Lysosmal Storage Disorders Presenting as Non-Immune Hydrops Fetalis: A Case Report

The frequency of NIHF (Non-immunological hydrops fetalis) and congenital ascites associated with LSD (Lysosomal storage disorders) is exceptionally rare. The reported incidence worldwide is about 1% with very limited reports from the MENA (Middle East and North Africa) region despite high incidence of consanguinity in the area. We report a case of NIHF with subcutaneous edema and congenital asc...

متن کامل

Nonimmune hydrops fetalis in a children's hospital: a six-year series.

INTRODUCTION We aimed to study the profile of nonimmune hydrops fetalis (NIHF) in the local population and identify its outcomes and causes. METHODS We carried out a retrospective review of the medical records in KK Women's and Children's hospital, a single tertiary referral centre, for pregnancies with an antenatal diagnosis of NIHF in the six-year period from 1 January 2005 to 31 December 2...

متن کامل

Etiology and Perinatal Outcome of Nonimmune Hydrops Fetalis in Southern China

Objective  This study aims to analyze the etiology and perinatal outcome of nonimmune hydrops fetalis (NIHF) in Southern China. Methods  All cases with NIHF diagnosed antenatally from January 1, 2007 to December 31, 2014 were identified and analyzed. Results  Total 482 cases of NIHF were identified during the study period. The most common cause of NIHF was hemoglobin (Hb) Bart's disease (61.8%)...

متن کامل

Clinical course of sly syndrome (mucopolysaccharidosis type VII)

BACKGROUND Mucopolysaccharidosis VII (MPS VII) is an ultra-rare disease characterised by the deficiency of β-glucuronidase (GUS). Patients' phenotypes vary from severe forms with hydrops fetalis, skeletal dysplasia and mental retardation to milder forms with fewer manifestations and mild skeletal abnormalities. Accurate assessments on the frequency and clinical characteristics of the disease ha...

متن کامل

Human parvovirus B19 associated non-immune hydrops fetalis.

Non-immune hydrops fetalis (NIHF) in a relatively rare syndrome associated with different etiologies, usually due to chromosomal aberrations or cardiac anomalies. Human parvovirus B 19 (HPV B 19) associated intrauterine infections. NIHF and fetal loss have been reported lately. HPV B19 passes through the placenta and infects eiythroid progenitor cells with subsequent lysis, anemia and hydrops. ...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:

دوره 7  شماره 

صفحات  -

تاریخ انتشار 2012