Aug 2026· European Journal of Endocrinology· Vol 195· 0 citations
TL;DR
This case describes a novel GATM variant in a patient with hypophosphatemic osteomalacia, which underscores the importance of thorough evaluation for early diagnosis and targeted management to achieve better outcomes.
Abstract
Fanconi renotubular syndrome is an uncommon group of disorders characterized by proximal tubulopathies. There are five recognized subtypes of Fanconi syndrome, designated FRTS1-5.
A 40-year-old woman presented with bilateral hip pain ongoing for three years. She had sustained fractures in both legs from minor trauma three years earlier. Laboratory investigations revealed hypophosphatemia and a decreased TMP-GFR. Urinalysis showed proteinuria, calcinuria, and glucosuria. Whole-exome sequencing identified a novel heterozygous missense mutation in GATM, which was a VUS. Sanger sequencing of family members confirmed the same variant in affected relatives.
She was treated with phosphorus supplements and alkali therapy. After one year of follow-up, her pain improved, and she experienced no further fractures.
This case describes a novel GATM variant in a patient with hypophosphatemic osteomalacia. It underscores the importance of thorough evaluation for early diagnosis and targeted management to achieve better outcomes.
Abstract Gitelman syndrome (GS) is an inherited salt-wasting, hypokalemic tubulopathy caused mainly by biallelic loss-of-function variants in the SLC12A3 gene. Despite being classically diagnosed in adolescence, delayed recognition may occur. We present the case of a 74-year-old man with a history of hypokalemia, in wh...
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Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive neuroendocrine disorder caused by mutations in DCAF17. We report the case of a non-consanguineous Chinese family with two affected siblings who presented with triangular facies, sparse hair, progressive gonadal dysfunction, hypothyroidism, and diabetes melli...
Xiao-Yang Shi, Kai Zhang, Jun-Peng Yang et al.· Rare Disease and Orphan Drug...· 0 citations
A patient with longstanding myotonia congenita due to a CLCN1 variant in whom an incidental discovery of severe hypocalcemia led to the diagnosis of GNAS-related pseudohypoparathyroidism (PHP), demonstrating two clinically expressed Mendelian disorders together with a third actionable molecular finding.
Noha N. Mukhtar, Deema Alturki, Allianah D. Benito et al.· Frontiers in Endocrinology· 0 citations
Background FHH2 is the rarest subtype of familial hypocalciuric hypercalcemia disorders affecting the CaSR signaling pathway. It is caused by heterozygous loss-of-function mutations in the GNA11 gene, encoding Gα11 protein. Only seven GNA11 pathogenic variants have been reported so far. Case description We report the c...
F. Cetani, F. Citro, S. Borsari et al.· Frontiers in Endocrinology· 0 citations
Liddle syndrome (LS) is a rare autosomal dominant condition classically defined by early-onset hypertension, hypokalemia, metabolic alkalosis, and a suppressed renin-aldosterone profile, primarily driven by gain-of-function mutations in the
SCNN1A
,
SCNN1B
, or
SCNN1G
genes encoding the epithelial sodium...
Yun-Long Liang, Ya Zheng, Hua Yuan et al.· Journal of Medical Case Repo...· 0 citations
Adult-onset hypophosphatasia manifests after age 18, and is characterized by reduced tissue-nonspecific alkaline phosphatase (ALP) activity. This can lead to fractures, pseudo-fractures, osteomalacia, decreased bone density (bone loss), muscle weakness, myalgia, arthralgia, headache, dental symptoms (loss of permanent...
Kota Hyakuna, Shigeru Iwata, Taro Nishikawa et al.· Modern Rheumatology Case Rep...· 0 citations
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