ESPN 50th Annual Meeting

ESPN 2017


 
A CONGENITAL DISEASE MIMICKING CONGENITAL NEPHROTIC SYNDROME
NURDAN YILDIZ 1 MEHTAP SAK 1 SABAHAT INANIR 2 BILGE SAHIN AKKELLE 3 HARIKA ALPAY 1

1- MARMARA UNIVERSITY SCHOOL OF MEDICINE, DEPARTMENT OF PEDIATRIC NEPHROLOGY
2- MARMARA UNIVERSITY SCHOOL OF MEDICINE, DEPARTMENT OF NUCLEAR MEDICINE
3- MARMARA UNIVERSITY SCHOOL OF MEDICINE, DEPARTMENT OF PAEDIATRIC GASTROENTEROLOGY AND HEPATOLOGY
 
Introduction:

Primary lymphatic dysplasia (PLD) is a hereditary developmental abnormality of the lymphatic system, resulting in primary lymphedema. Some of the patients have generalized edema and hydrops fetalis.

We report a case of a female patient with PLD with systemic involvement presented as nephrotic syndrome.

Material and methods:

 

 

 

Results:

 A three months old girl referred with generalized edema with severe abdominal distension and hypoalbuminemia. She was born to consanguineous parents at 34 weeks of gestation due to hydrops fetalis diagnosed at 3rd trimester. The patient was treated in neonatal intensive care unit for two months because of respiratory distress and sepsis. Physical examination showed abdominal distension due to ascites fluid, generalized edema including severe genital edema.  Laboratory investigation revealed: serum albumin: 2.9 mg/dl, 24 hour urine protein: 15 mg/m2/hour. Renal functions, serum electrolytes, complement 3 and antinuclear antibody were normal. Metabolic screening tests and viral serology including TORCH, hepatitis B and C virus were negative, ascites fluid was serous. During the follow-up, serum albumin level of the patient was remained between 2.6-2.9 g/dl and she did not need regular albumin infusion. Based on clinical and laboratory findings, lymphatic edema was considered in differential diagnosis. Lymphoscintigraphy confirmed diagnosis and revealed primary lymphatic dysplasia. 

Figure 1. Lymphoscintigraphy of the patients

 

Conclusions:

 Primary lymphatic dysplasia should be kept in mind in the differential diagnosis of the patients presented as nephrotic syndrome without massive proteinuria and mild, stabile hypoalbuminemia. Generalized edema and hydrops fetalis may develop in these patients. Lymphoscintigraphy is widely considered the main investigative tool for establishing the diagnosis of PLD.