Schimke immune-osseous dysplasia : a case report

Schimke immune-osseous dysplasia (SIOD) is a rare autosomal recessive disorder characterized by spondylo-epiphyseal dysplasia (SED), progressive renal insufficiency beginning as steroid-resistant nephrotic syndrome (SRNS) and defective cellular immunity. This article reports a case from Egypt with a...

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Bibliographic Details
Published in:Saudi journal of kidney diseases and transplantation 2015-09, Vol.26 (5), p.987-991
Main Authors: Sarhan, Umar, Hammad, Ayman, al-Muji, Atif, Zaydan, Muhammad Majdi, al-Husayni, Fatimah, Id, Riham, Bakr, Ashraf, al-Rifai, Ahmad Mahmud
Format: Article
Language:English
Subjects:
Adolescent
Age
Arteriosclerosis - diagnosis
Arteriosclerosis - genetics
Arteriosclerosis - therapy
Biopsy
Blood pressure
Bone marrow
Care and treatment
Case studies
Complications
Diagnosis
Disease Progression
Dysplasia
Egypt
Fatal Outcome
Growth hormones
Heart failure
Humans
Immunologic Deficiency Syndromes - diagnosis
Immunologic Deficiency Syndromes - genetics
Immunologic Deficiency Syndromes - therapy
Infections
Intellectual disabilities
Kidney diseases
Laboratories
Male
Nephrotic syndrome
Nephrotic Syndrome - diagnosis
Nephrotic Syndrome - genetics
Nephrotic Syndrome - therapy
NMR
Nuclear magnetic resonance
Osteochondrodysplasias - diagnosis
Osteochondrodysplasias - genetics
Osteochondrodysplasias - therapy
Patients
Pulmonary Embolism - diagnosis
Pulmonary Embolism - genetics
Pulmonary Embolism - therapy
Pulmonary hypertension
Time Factors
Ultrasonic imaging
الالتهاب الرئوي
المتلازمة الكلوية
المضاعفات
دراسات الحالة
نخاع العظم
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Description
Summary:Schimke immune-osseous dysplasia (SIOD) is a rare autosomal recessive disorder characterized by spondylo-epiphyseal dysplasia (SED), progressive renal insufficiency beginning as steroid-resistant nephrotic syndrome (SRNS) and defective cellular immunity. This article reports a case from Egypt with a mild form of SIOD. A 14.5-year-old male patient presented with disproportionate short stature, SRNS (focal and segmental glomerulosclerosis), laboratory evidence of cellular immune deficiency and radiologic characteristics of SED. He died at the age of 16.5 years with bone marrow failure and severe pneumonia. To the best of our knowledge, this is the first case of SIOD to be reported from Egypt.
ISSN:1319-2442
2320-3838
DOI:10.4103/1319-2442.164585