30.09.2017 | Scientific Letter
Proprotein Convertase 1/3 Deficiency
Erschienen in: Indian Journal of Pediatrics | Ausgabe 4/2018
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To the Editor: Congenital diarrheal disorders (CDD’s) are a rare entity caused by various recessively inherited mutations and typically manifest in early stages of life [1]. Proprotein convertase subtilisin/kexin type 1 (PCSK1) gene encodes for prohormone convertase 1/3 (PC1/3) responsible for peptide hormone processing within the enteroendocrine cell [2]. This enzyme activates multiple substrates including proglucagon, pro-insulin, and propiomelanocortin to their active metabolites [3]. PC1/3 deficiency leads to severe watery diarrhea, impaired growth in infantile period, and severe obesity and endocrinopathies e.g., Growth Hormone (GH) deficiency, Diabetes Insipidus (DI) and hypogonadism if children survive the neonatal period [3]. We report two siblings who presented with severe diarrhea in the neonatal period and summarize their clinical features outlining the importance of early diagnosis and intervention (Table 1).
Case 1
|
Case 2
|
|
---|---|---|
Ethnicity
|
Arabic
|
Arabic
|
Sex
|
Male
|
Male
|
Outcome;Age
|
Alive; 5 y
|
Alive; 3 y
|
Consanguinity
|
Yes
|
Yes
|
Family history
|
No
|
No
|
Birth Weight
|
3.5 kg
|
2.97 kg
|
Age presented
|
2 wk
|
2 wk
|
GI manifestations
|
Yes
|
Yes
|
Age of onset of obesity
|
4 y
|
2 y
|
Onset of Diabetes Insipidus
|
2 y
|
19 mo
|
Growth hormone deficiency confirmed; Age; Treated
|
Yes; 4 y; on growth hormone therapy
|
No
|
Hypothyroid
|
No
|
No
|
Hypogonadism
|
No
|
No
|
Hypocortisolism
|
No
|
No
|
Post prandial hypoglycemia
|
No
|
No
|
Current weight/ percentile
|
32 kg (on 98th percentile)
|
17 kg (on 97th percentile)
|
Current height/percentile
|
113 cm (on 20th percentile)
|
93 cm (on 40th percentile)
|
BMI
|
25.06 kg/m2
|
25 kg/m2
|
Current medications
|
Growth hormone, Desmopressin
|
Desmopressin
|