imagem top

2019

ANUÁRIO DO HOSPITAL
DONA ESTEFÂNIA

CHULC LOGOlogo HDElogo anuario

CONGENITAL NEPHROTIC SYNDROME AS THE PRESENTING FEATURE OF T-BlowNK- SCID

Filipa Marujo1, Ana Paula Rocha1, Ana Cordeiro1, Conceição Neves1, Ana Paula Serrão2, Andrew Gennery3, João Farela Neves1

1- Primary Immunodeficiencies Unit, Hospital Dona Estefânia, CHLC – EPE. Lisbon. Portugal
2- Nephrology Unit, Hospital Dona Estefânia, CHLC – EPE. Lisbon. Portugal
3- Paediatric Immunology and Infectious Diseases and Bone Marrow Transplantation, Great North Children’s Hospital, Newcastle, UK

- 18th Biennial Meeting of the European Society for Imunodeficiencies
- International meeting
- E-poster

Resumo:
Background: Congenital nephrotic syndrome is a rare kidney disorder characterized by heavy proteinuria, hypoproteinemia, and edema starting soon after birth. Severe combined immunodeficiency diseases are a group of genetic disorders that result in the absence or dysfunction of T/B lymphocytes. Materno-fetal engraftment (MFE) occurs in a subset of these patients, usually with Omenn-like features.
Case Report: A 2 weeks-old boy was admitted because of severe proteinuria, hypoproteinemia and generalized edema, requiring daily albumin transfusion. At the age of 2 months he developed colitis that resolved with the introduction of a milk-free formula. At the age of 3 months he presented with generalized erythrodermia and eosinophilia, leading to the diagnosis of T-BlowNK- SCID with MFE. He received prophylaxis with itraconazole, cotrimoxazole and IVIG replacement. Steroids and cyclosporine were started to control the MFE, with complete skin recovery. As his proteinuria improved, only requiring sporadic albumin transfusions, a diagnostic kidney biopsy was not performed. He ultimately received HSCT from a matched unrelated donor, following conditioning with alemtuzumab, treosulphan and fludarabine. He is now 3 years-old, he has full donor chimerism, no GvHD and his proteinuria completely resolved (dramatically improved after engraftment and resolved by the age of 6 months post-HSCT). No genetic cause for his disease was identified (he has heterozygous mutations in JAK3 and IL7R genes and no deletion/duplication was found).
Conclusion: Despite being relatively common in SCID patients, MFE doesn’t usually manifest as nephrotic syndrome. The development of classic MFE features allowed proper diagnosis and management.

Palavras Chave: congenital nephrotic syndrome, hematopoietic stem cell transplantation, materno-fetal engraftment, T-BlowNK- SCID