Title:Renal Involvement in H Syndrome, A Rare Cause of Diabetes Mellitus: Case
Report
Volume: 23
Issue: 5
Author(s): Recep Polat*, Ala Ustyol, Rabia Altunbaş and Serdar Ceylaner
Affiliation:
- Department of Pediatric Endocrinology, Sakarya Training and Research Hospital Sakarya, Sakarya University, Ministry
of Health, Turkey
Keywords:
H syndrome, histiocytosis-lymphadenopathy plus syndrome, skin hyperpigmentation, Diabetes Mellitus, proteinuria, genodermatosis.
Abstract:
Background: H syndrome is a rare genodermatosis deriving from a mutation in the
SLC29A3 gene and affecting numerous systems, particularly the skin. The syndrome exhibits different
clinical characteristics involving several systems, most beginning with the letter "H." The
most common clinical findings are cutaneous hyperpigmentation, flexion contracture in the fingers,
hearing loss, short stature, insulin-dependent diabetes mellitus, heart anomalies, hepatosplenomegaly,
and hypogonadism. Fewer than 150 cases have been reported so far and vast majority
of them consisted with patients with Arab ethnicity.
Case Presentation: We describe a patient presenting with short stature, developing diabetes mellitus
at follow-ups, with homozygous deletion determined in exon 3 of the SLC29A3 gene, and diagnosed
with H syndrome, reported due to the presence and rarity of renal involvement (hematuria
and proteinuria).
Conclusion: In conclusion, despite its rarity, endocrinologists, rheumatologists/nephrologists, and
dermatologists need to be aware of H syndrome as a pleiotropic syndrome. H syndrome should be
considered in the differential diagnosis of patients with cutaneous hyperpigmentation (particularly
in the bilateral thigh and calf region) together with proteinuria/hematuria. In addition, periodic
urine analysis should be performed in patients with H syndrome.
