Abstract
Lysosomal storage disorders (LSD) are rare inherited neurovisceral inborn errors of metabolism which may present as nonimmune hydrops fetalis (NIHF) during pregnancy. Although causes of NIHF are highly diverse, LSDs are one of the underlying causes of NIHF. The aim of this study was to elucidate most frequent causes of LSDs presenting as NIHF in Indian population. Several fetal tissues were investigated for enzymatic diagnosis of LSDs using modified fluorometric assays in the current prospective study carried out at our national tertiary center from 2006 through 2016. Other general causes of NIHF were ruled out. Twenty-one percent (7/33) of cases were confirmed to have LSDs. Two patients were diagnosed with Hurler syndrome; two had Sly syndrome and one each of Niemann-Pick disease type A/B, Gaucher’s disease, and mucolipidosis. Four of eleven cases (36%) with recurrent NIHF were found to have LSDs. In spite of extreme rarity of LSDs, they should be considered as a potential cause of NIHF, especially with recurrent NIHF. Specific investigations of LSD leading to definitive diagnosis may aid the clinician in providing accurate genetic counseling and prenatal diagnosis to the patients and help in subsequent pregnancies to the families. Furthermore, early intervention and management with enzyme replacement therapy may be planned for the lysosomal storage disorders where available.
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References
Applegarth DA, Toone JR, Wilson RD et al (1987) Morquio disease presenting as hydrops fetalis and enzyme analysis of chorionic villus tissue in a subsequent pregnancy. Pediatr Pathol Affil Int Paediatr Pathol Assoc 7:593–599
Bellini C, Hennekam RCM, Fulcheri E et al (2009) Etiology of nonimmune hydrops fetalis: a systematic review. Am J Med Genet A 149A:844–851. doi:10.1002/ajmg.a.32655
Burin MG, Scholz AP, Gus R et al (2004) Investigation of lysosomal storage diseases in nonimmune hydrops fetalis. Prenat Diagn 24:653–657. doi:10.1002/pd.967
Cheng Y, Verp MS, Knutel T, Hibbard JU (2003) Mucopolysaccharidosis type VII as a cause of recurrent non-immune hydrops fetalis. J Perinat Med 31:535–537. doi:10.1515/JPM.2003.083
Daneman A, Stringer D, Reilly BJ (1983) Neonatal ascites due to lysosomal storage disease. Radiology 149(2):463–467
Gimovsky AC, Luzi P, Berghella V (2015) Lysosomal storage disease as an etiology of nonimmune hydrops. Am J Obstet Gynecol 212:281–290. doi:10.1016/j.ajog.2014.10.007
Ismail KM, Martin WL, Ghosh S et al (2001) Etiology and outcome of hydrops fetalis. J Matern Fetal Med 10:175–181
Machin GA (1989) Hydrops revisited: literature review of 1,414 cases published in the 1980s. Am J Med Genet 34:366–390. doi:10.1002/ajmg.1320340313
Ota S, Sahara J, Mabuchi A et al (2016) Perinatal and one-year outcomes of non-immune hydrops fetalis by etiology and age at diagnosis. J Obstet Gynaecol Res 42:385–391. doi:10.1111/jog.12922
Parks WT (2015) A pathologist’s approach to nonimmune hydrops. J Fetal Med 2:143–149. doi:10.1007/s40556-015-0055-x
Sheth J, Mistri M, Sheth F, Datar C, Godbole K, Kamate M, Patil K (2014) Prenatal diagnosis of lysosomal storage disorders by enzymes study using chorionic villus and amniotic fluid. J Fetal Med 1:17. doi:10.1007/s40556-014-0001-3
Sheth J, Patel P, Sheth F, Shah R (2004) Lysosomal storage disorders. Indian Pediatr 41:260–265
Society for Maternal-Fetal Medicine (SMFM), Norton ME, Chauhan SP, Dashe JS (2015) Society for maternal-fetal medicine (SMFM) clinical guideline #7: nonimmune hydrops fetalis. Am J Obstet Gynecol 212:127–139. doi:10.1016/j.ajog.2014.12.018
Staretz-Chacham O, Lang TC, LaMarca ME et al (2009) Lysosomal storage disorders in the newborn. Pediatr 123:1191–1207. doi:10.1542/peds.2008-0635
Swain S, Cameron AD, McNay MB, Howatson AG (1999) Prenatal diagnosis and management of nonimmune hydrops fetalis. Aust N Z J Obstet Gynaecol 39:285–290
Verma PK, Ranganath P, Dalal AB, Phadke SR (2012) Spectrum of lysosomal storage disorders at a medical genetics center in northern India. Indian Pediatr 49:799–804
Vianey-Saban C, Acquaviva C, Cheillan D et al (2016) Antenatal manifestations of inborn errors of metabolism: biological diagnosis. J Inherit Metab Dis 39:611. doi:10.1007/s10545-016-9947-8
Whybra C, Mengel E, Russo A et al (2012) 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. Orphanet J Rare Dis 7:86. doi:10.1186/1750-1172-7-86
Acknowledgment
We sincerely thank the patients and their families for their cooperation and for consenting to investigations. The authors also thank Dr. Sunil Trivedi for critical reading of the manuscript.
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Communicated by: Markus Ries, MD, PhD, MHSc, FCP
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Synopsis
A subset of inborn errors of metabolism is a noteworthy cause for recurrent nonimmune fetal hydrops, with Hurler and Sly syndromes being among the common causes in Indian population.
Conflict of Interests
Jayesh Sheth, Mehul Mistri, Krati Shah, Mayank Chaudhary, Koumudi Godbole, and Frenny Sheth declare that they have no conflict of interests (financial or nonfinancial).
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Informed written consent was obtained from all the participants for publication of their clinical details and/or clinical images. A copy of the written consent is available for review by the editor of this journal.
Ethics
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Present study under submission has been approved by the institutional ethics committee [FRIGE’s Institute of Human Genetics] wide approval number FRIGE/IEC/5/2010 dated 7th March, 2010. This process is in accordance with the Helsinki Declaration.
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An informed consent was obtained from the parents before enrolling for the investigations [this was in accordance with the requirement of the institutional ethics committee].
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An informed consent for publication was also obtained from the individuals included in the submission [this was in accordance with the requirement of the institutional ethics committee].
Authors’ Contributions
Planned and designed the experiments: JS, MM. Clinical analysis: KS, KG, MC. Enzyme and molecular analysis: JS, MM. Wrote the first draft of the manuscript: KS and FS. Made critical revisions and approved final version: KS, JS, and FS. All authors reviewed and approved of the final manuscript.
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No funding was received for this part of the study.
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© 2017 Society for the Study of Inborn Errors of Metabolism (SSIEM)
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Sheth, J., Mistri, M., Shah, K., Chaudhary, M., Godbole, K., Sheth, F. (2017). Lysosomal Storage Disorders in Nonimmune Hydrops Fetalis (NIHF): An Indian Experience. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 35. JIMD Reports, vol 35. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2016_24
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DOI: https://doi.org/10.1007/8904_2016_24
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