Clinical Presentation, Diagnosis, and Genetic Characteristics of Patients with Hypophosphatemic Rickets

Yasemin Denkboy Ongen; Şehime G Temel; Ömer Tarım; Şebnem Özemri Sağ; Erdal Eren

Makale detayları

Clinical Presentation, Diagnosis, and Genetic Characteristics of Patients with Hypophosphatemic Rickets

Yazarlar:

Yasemin Denkboy Ongen | Şehime G Temel | Ömer Tarım | Şebnem Özemri Sağ | Erdal Eren

Yayıncı:

Bursa Uludağ University

Ana Başlıklar:

Endokrinoloji | Klinik Tıp Bilimleri (Diğer)

Dergi:

Uludağ Üniversitesi Tıp Fakültesi Dergisi Vol.51 Issue 2, pp.193-200

Belge Tipi:

Makale

Yayın Tarihi:

8/2025

Belge Dili:

İngilizce

Document ID (Org No.):

2001350302

pISSN:

1300-414X

Anahtar kelimeler:

Özet:

 Phosphate plays an essential role in bone mineralization. Hypophosphatemic rickets HR is a rare phosphate-wasting disorder that leads to rickets, which may be FGF23-dependent or independent. In this study, we aimed to evaluate the clinical features of HR patients with genotypic and phenotypic features. This study included 32 children. The suspected gene was primarily studied in cases meeting the clinical diagnosis. Variants were evaluated according to ACMG criteria. All HR patients median ages at the onset of complaints and diagnosis were 1.5 and 5 years, respectively p0.001. The most common complaint is bowlegs. At the time of diagnosis, calcium was 9.70 mgdl; phosphorus was 2.680.64 mgdl; ALP was 530245 ul, PTH was 58.70 ngl, tubular phosphate reabsorption was 7417, and TmPGFR was 2.581.15. Five of 32 patients were diagnosed with McCune-Albright syndrome, and two patients were followed as HR secondary to chemotherapy. Variants of the PHEX gene were identified in 15 cases X-linked HR. In X-linked HR patients, no statistically significant difference was found between the age of presentation and diagnosis. Diagnostic delay was observed in infantile hypercalcemia type 2 and hereditary HR with hypercalciuria patients who were followed with nephrocalcinosis from an early age. In conclusion, HR is rare, and patients with bowlegs, short stature, kidney stones, hypophosphatemia, and renal phosphate wasting should be classified as FGF-23 dependent or FGF-23 independent of initiating treatment as soon as possible. Delayed diagnosis is common in cases of nephrocalcinosis, so measurement of calcium and phosphate levels should be standard for these patients.

 Phosphate plays an essential role in bone mineralization. Hypophosphatemic rickets HR is a rare phosphate-wasting disorder that leads to rickets, which may be FGF23-dependent or independent. In this study, we aimed to evaluate the clinical features of HR patients with genotypic and phenotypic features. This study included 32 children. The suspected gene was primarily studied in cases meeting the clinical diagnosis. Variants were evaluated according to ACMG criteria. All HR patients median ages at the onset of complaints and diagnosis were 1.5 and 5 years, respectively p0.001. The most common complaint is bowlegs. At the time of diagnosis, calcium was 9.70 mgdl; phosphorus was 2.680.64 mgdl; ALP was 530245 ul, PTH was 58.70 ngl, tubular phosphate reabsorption was 7417, and TmPGFR was 2.581.15. Five of 32 patients were diagnosed with McCune-Albright syndrome, and two patients were followed as HR secondary to chemotherapy. Variants of the PHEX gene were identified in 15 cases X-linked HR. In X-linked HR patients, no statistically significant difference was found between the age of presentation and diagnosis. Diagnostic delay was observed in infantile hypercalcemia type 2 and hereditary HR with hypercalciuria patients who were followed with nephrocalcinosis from an early age. In conclusion, HR is rare, and patients with bowlegs, short stature, kidney stones, hypophosphatemia, and renal phosphate wasting should be classified as FGF-23 dependent or FGF-23 independent of initiating treatment as soon as possible. Delayed diagnosis is common in cases of nephrocalcinosis, so measurement of calcium and phosphate levels should be standard for these patients.

 Phosphate plays an essential role in bone mineralization. Hypophosphatemic rickets HR is a rare phosphate-wasting disorder that leads to rickets, which may be FGF23-dependent or independent. In this study, we aimed to evaluate the clinical features of HR patients with genotypic and phenotypic features. This study included 32 children. The suspected gene was primarily studied in cases meeting the clinical diagnosis. Variants were evaluated according to ACMG criteria. All HR patients median ages at the onset of complaints and diagnosis were 1.5 and 5 years, respectively p0.001. The most common complaint is bowlegs. At the time of diagnosis, calcium was 9.70 mgdl; phosphorus was 2.680.64 mgdl; ALP was 530245 ul, PTH was 58.70 ngl, tubular phosphate reabsorption was 7417, and TmPGFR was 2.581.15. Five of 32 patients were diagnosed with McCune-Albright syndrome, and two patients were followed as HR secondary to chemotherapy. Variants of the PHEX gene were identified in 15 cases X-linked HR. In X-linked HR patients, no statistically significant difference was found between the age of presentation and diagnosis. Diagnostic delay was observed in infantile hypercalcemia type 2 and hereditary HR with hypercalciuria patients who were followed with nephrocalcinosis from an early age. In conclusion, HR is rare, and patients with bowlegs, short stature, kidney stones, hypophosphatemia, and renal phosphate wasting should be classified as FGF-23 dependent or FGF-23 independent of initiating treatment as soon as possible. Delayed diagnosis is common in cases of nephrocalcinosis, so measurement of calcium and phosphate levels should be standard for these patients.

 Fosfat kemik mineralizasyonunda önemli bir rol oynar. Hipofosfatemik rikets HR, FGF23e bağlı veya bağımsız olabilen riketse yol açan nadir bir fosfat kaybı bozukluğudur. Bu çalışmada, hipofosfatemik rikets hastalarının klinik özelliklerini genotip ve fenotipik özellikleriyle değerlendirmeyi amaçladık. Bu çalışmaya otuz iki hasta dâhil edildi. Klinik tanıyı karşılayan olgularda öncelikle şupheli gen çalışıldı. Varyantlar ACMG kriterlerine göre değerlendirildi. Tum HR hastalarının şikâyetlerin başlangıcındaki ve tanıdaki medyan yaşları sırasıyla 1,5 ve 5 yıl idi p0,001. En sık görulen şikâyet bacak eğriliğiydi. Tanı anında kalsiyum 9,70 mgdl; fosfor 2,680,64 mgdl; ALP 530245 ul, PTH 58,70 ngl, tubuler fosfat reabsorbsiyonu 7417 ve TmPGFR 2,581,15 olarak bulundu. Otuz iki hastanın beşi McCune Albright sendromu tanısı aldı ve iki hasta kemoterapiye sekonder HR olarak takip edildi. On beş vakada PHEX gen varyantları saptandı Xe bağlı HR. Xe bağlı HR hastalarında başvuru yaşı ile tanı yaşı arasında istatistiksel olarak anlamlı bir fark bulunmadı. Erken yaştan itibaren nefrokalsinozis ile takip edilen infantil hiperkalsemi tip 2 ve hiperkalsiurik herediter hipofosfatemik raşitizm hastalarında tanı gecikmesi gözlendi. Sonuç olarak hipofosfatemik raşitizm nadir görulur ve bacak eğriliği, boy kısalığı, böbrek taşı, hipofosfatemi ve renal fosfat kaybı olan hastalar mumkun olan en kısa surede FGF-23 bağımlı veya FGF-23 bağımsız olarak sınıflandırılmalı ve tedavi planlanmalıdır. Nefrokalsinozis olgularında tanı gecikmesi sık görulduğunden bu hastalarda kalsiyum ve fosfat duzeylerinin ölçumu standart olmalıdır.

Makale detayları

Clinical Presentation, Diagnosis, and Genetic Characteristics of Patients with Hypophosphatemic Rickets

Yazarlar:

Yasemin Denkboy Ongen | Şehime G Temel | Ömer Tarım | Şebnem Özemri Sağ | Erdal Eren

Yayıncı:

Bursa Uludağ University

Ana Başlıklar:

Endokrinoloji | Klinik Tıp Bilimleri (Diğer)

Dergi:

Uludağ Üniversitesi Tıp Fakültesi Dergisi Vol.51 Issue 2, pp.193-200

Belge Tipi:

Makale

Yayın Tarihi:

8/2025

Belge Dili:

İngilizce

Document ID (Org No.):

2001350302

pISSN:

1300-414X

Hypophosphatemic rickets

McCune Albright Syndrome

PHEX

SLC34A3

SLC34A1Hipofosfatemik raşitizm

McCune Albright Sendromu

PHEX

SLC34A3

SLC34A1

Sayı

Makale detayları

Yazarlar: Yasemin Denkboy Ongen | Şehime G Temel | Ömer Tarım | Şebnem Özemri Sağ | Erdal Eren

Yayıncı: Bursa Uludağ University

Ana Başlıklar: Endokrinoloji | Klinik Tıp Bilimleri (Diğer)

Dergi: Uludağ Üniversitesi Tıp Fakültesi Dergisi Vol.51 Issue 2, pp.193-200

Belge Tipi: Makale

Yayın Tarihi: 8/2025

Belge Dili: İngilizce

Document ID (Org No.): 2001350302

pISSN: 1300-414X

Sayı

Yazarlar:

Yasemin Denkboy Ongen | Şehime G Temel | Ömer Tarım | Şebnem Özemri Sağ | Erdal Eren

Yayıncı:

Bursa Uludağ University

Ana Başlıklar:

Endokrinoloji | Klinik Tıp Bilimleri (Diğer)

Dergi:

Uludağ Üniversitesi Tıp Fakültesi Dergisi Vol.51 Issue 2, pp.193-200

Belge Tipi:

Makale

Yayın Tarihi:

8/2025

Belge Dili:

İngilizce

Document ID (Org No.):

2001350302

pISSN:

1300-414X