Oct 2026· CEN Case Reports· Vol 15· 0 citations· 19 references
Medicine
TL;DR
The case of a Japanese boy with a de novo SLC4A1 variant who presented with marked growth failure from 6 months of age and was diagnosed with AD-dRTA at 27 months illustrates that AD-dRTA may present during infancy and that assessment of acid–base status may facilitate timely diagnosis in children with otherwise unexplained growth failure.
SLC29A3-related disorder spectrum encompasses rare autosomal recessive conditions characterized by multisystem involvement, including immunodeficiency, lymphoproliferation, cutaneous findings, endocrine dysfunction, and growth failure. The clinical presentation is highly heterogeneous, often leading to delayed diag...
M. Ishqair, Abbas K. H. Masalma, M. Saleh et al.· Frontiers in Genetics· 0 citations
The severe hypouricemia and excessive urinary uric acid excretion observed in this patient provide clinical evidence supporting the pathogenic significance of the A209V and F379L combination and suggest that urinary alkalization may be beneficial in the management of nephrolithiasis associated with RHUC.
N. Otani, M. Yamamoto, T. Takata et al.· CEN Case Reports· 0 citations
Congenital renal hypouricemia (RHUC) is a heterogeneous inherited disorder characterized by impaired tubular uric acid transport with severe complications, such as acute kidney injury. Type 1 is caused by a loss-of-function mutation in the SLC22A12 gene (URAT1), type 2 in the SLC2A9 gene (GLUT9). We describe the clinic...
Jiří Vávra, Eliska Pacalova, K. Pavelcová et al.· Bratislava Medical Journal· 0 citations
Infantile hypercalcemia type 1 (HCINF1) is a rare genetic disorder caused by pathogenic variants in the CYP24A1 gene, which encodes the vitamin D–catabolic enzyme 24-hydroxylase responsible for inactivating 1,25-dihydroxyvitamin D₃. The clinical presentation ranges from severe forms diagnosed in infancy—characterized b...
Nikolina Vucenovic Basic, B. Beck, A. Balasko et al.· Frontiers in Medicine· 0 citations
Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) is a rare metabolic bone disorder caused by biallelic loss-of-function variants in ENPP1, the gene encoding for Ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), an enzyme essential for generating extracellular pyrophosphate, a key endogenous inhibit...
Background: Rickets that does not improve with conventional treatment warrants evaluation for non-nutritional causes. Distal renal tubular acidosis (dRTA) can impair bone mineralization through persistent metabolic acidosis.
Case summary: A 6-year-old boy born to consanguineous parents presented with three years of pro...
Lutfun Nahar, Md. Anowar Hossain, E. Mondal et al.· Journal of Association of Cl...· 0 citations
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