scholarly journals Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH) Presenting with Genu Valgum Deformity: Treatment with Phosphate Supplementation and Surgical Correction

2020 ◽  
Vol 2020 ◽  
pp. 1-7
Author(s):  
Juan M. Colazo ◽  
Seth A. Reasoner ◽  
Ginger Holt ◽  
Marie C. M. Faugere ◽  
Kathryn M. Dahir
Keyword(s):  
Bone Biopsy ◽  
Fibroblast Growth Factor 23 ◽  
Missense Variant ◽  
Genu Valgum ◽  
Surgical Correction ◽  
Hypophosphatemic Rickets ◽  
Renal Ultrasound ◽  
Medullary Nephrocalcinosis ◽  
History Of ◽  
Uptake Studies

We describe a case of hereditary hypophosphatemic rickets with hypercalciuria (HHRH) in a 32-year-old female with short stature, chronic pathologic genu valgum deformity, and knee pain who was referred to endocrinology clinic after previous inconclusive workups. We present imaging spanning 10 years of untreated disease. Biochemical studies showed hypophosphatemia with undetectable fibroblast growth factor 23 (FGF23.) Renal ultrasound revealed bilateral medullary nephrocalcinosis despite no apparent hypercalciuria. Due to concern for HHRH, genetic testing was performed that determined this patient to be homozygous in the SLC34A3 gene for a previously described missense variant (c.1402C > T, p.Arg468Trp). There was no known family history of rickets. A bone biopsy with metabolic studies was performed for diagnostic and prognostic reasons. The histopathological findings along with tetracycline uptake studies were consistent with a diagnosis of HHRH. Treatment with phosphorous supplementation and surgical correction of her valgum deformity resulted in resolution of pain, but no change in bone histomorphometry.

scholarly journals Autosomal Dominant Hypophosphatemic Rickets Presenting in a Phenotypically Normal Adult Female

2019 ◽  
Vol 2019 ◽  
pp. 1-5 ◽  
Author(s):  
Hala Mualla ◽  
Su Ah Bae ◽  
Abid Yaqub
Keyword(s):  
Autosomal Dominant ◽  
Fibroblast Growth Factor 23 ◽  
Missense Variant ◽  
Normal Serum ◽  
Hypophosphatemic Rickets ◽  
Pubic Bone ◽  
Hydroxyvitamin D ◽  
Autosomal Dominant Hypophosphatemic Rickets ◽  
Normal Serum Calcium ◽  
History Of

We describe a presentation of Autosomal Dominant Hypophosphatemic Rickets (ADHR) in a 22-year-old female with normal pubertal growth and development and a negative family history in first-degree relatives. The patient presented with a 2-year history of upper and lower extremity proximal muscle pain and weakness and bilateral femoral neck and pubic bone insufficiency fractures. She had a normal serum calcium but a low phosphate as well as 25-hydroxyvitamin D (25(OH)D) levels leading initially to a diagnosis of osteomalacia. Urine phosphate reabsorption was low confirming a phosphate wasting disorder. She had an elevated Fibroblast Growth Factor 23 (FGF23) level. After Tumor-Induced Osteomalacia was ruled out by extensive imaging, she was sent for genetic testing for hereditary rickets which showed a previously reported missense variant in FGF23. Subsequently, she found out that her father’s maternal aunt and grandfather had ‘bone disorder’ and were wheelchair-bound in adulthood. After replenishment of vitamin D, treatment with calcitriol and phosphate leads to complete resolution of patient’s symptoms and laboratory abnormalities.

scholarly journals SUN-096 Incidentally Found Severe Hypercalcemia in a Pediatric Patient, Diagnostic Challenge

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Liliana Burdea ◽  
Natalia Salazar ◽  
Carla Minutti ◽  
Stelios Mantis
Keyword(s):  
Vitamin D ◽  
Pulmonary Stenosis ◽  
Laboratory Evaluation ◽  
Global Developmental Delay ◽  
Renal Ultrasound ◽  
Severe Hypercalcemia ◽  
Medullary Nephrocalcinosis ◽  
History Of ◽  
Idiopathic Infantile Hypercalcemia ◽  
Peripheral Pulmonary Stenosis

Abstract Introduction: Idiopathic infantile hypercalcemia is an intriguing feature of Williams syndrome (WS), occurring in ~15% of diagnoses and is typically not clinically severe. Symptomatic hypercalcemia usually resolves during childhood, but lifelong abnormalities of calcium(Ca) and vitamin D metabolism may persist. The cause of the abnormality in Ca metabolism is still unknown. Hypercalciuria generally accompanies hypercalcemia, but isolated hypercalciuria, especially after infancy, can also occur. Nephrocalcinosis is relatively rare, found in less than 10% of patients undergoing renal ultrasonography. We report a 13-month-old female infant with a history of peripheral pulmonary stenosis and constipation, who presented with severe hypercalcemia that led to a new diagnosis of WS. Case presentation: A 13-month-old girl with a history of peripheral pulmonary stenosis, global developmental delay, and constipation presented to the neurology clinic for evaluation of gross motor delay. She was found to have upper body part hypotonia, decreased reflexes, and on laboratory evaluation, severe hypercalcemia with Ca level of 15.0 mg/dL (8.7 - 10.7). The patient was admitted for management of severe hypercalcemia. Physical exam was also remarkable for subtle features of WS: a happy baby, very social, with prominent eyes, full cheeks, flat nasal bridge, round nasal tip, full lips, and a wide smile. Repeated Ca level on admission was 15.9 mg/dL, with normal albumin level of 4.6 g/dL (2.9-5.5), elevated ionized calcium (iCal) of 1.99 mmol/L (0.95 - 1.32), and intact parathyroid hormone (PTH) of <4.0 pg/mL (8.0 - 85.0). Further evaluation revealed a normal 25 hydroxy-vitamin D:41 ng/mL (30-80) and low 1,25-dihydroxy vitamin D:10pg/mL (31-87). Further evaluation revealed elevated urine calcium to creatinine ratio of 0.7 (normal for age <0.56) and renal ultrasound remarkable for medullary nephrocalcinosis. The patient had a complete blood count within normal limits and a PTH related protein of 26 pg/mL (14-27), ruling out malignancy. Hypercalcemia responded well to intravenous fluids and diuretics, the patient being discharged home after two days on furosemide and potassium supplements with close electrolytes monitoring. The patient required calcium reducing therapy for four months to maintain Ca levels within 9-12 range. The medication was decreased gradually based on calcium and ical levels. The patient is currently doing well, with a normal calcium level, and has being off medication for the past three months. Conclusion: This is a rare case of severe hypercalcemia, which led to the diagnosis of WS. Although idiopathic infantile hypercalcemia occurs in 15% of patients with WS, usually the presentation is mild, and the patients do not require medical interventions. Our patient presented with severe hypercalcemia and subtle physical features of WS that led to genetic testing and final diagnosis.

THE NUCLEAR FACTOR OF HEPATOCYTES 1β (HNF1β)–ASSOCIATED DISEASE. CLINIC, DIAGNOSTIC, TREATMENT (LITERATURE REVIEW AND CLINICAL OBSERVATION)

2019 ◽  
Vol 23 (2) ◽  
pp. 100-108
Author(s):  
S. V. Papizh ◽  
O. R. Piruzieva
Keyword(s):  
Sanger Sequencing ◽  
Clinical Observation ◽  
Liver Enzymes ◽  
Renal Ultrasound ◽  
Nuclear Factor ◽  
Hepatocyte Nuclear Factor ◽  
Renal Hypoplasia ◽  
Unilateral Renal Agenesis ◽  
Elevated Liver Enzymes ◽  
Medullary Nephrocalcinosis

Hepatocyte nuclear factor 1β (HNF1β)-associated disease is a rare autosomal dominant disease caused by various mutations in the HNF1β gene coding the hepatocyte nuclear factor 1β. HNF1β is a transcription factor that is critical for the development of kidney urogenital tract, pancreas, liver, brain, and parathyroid gland. Renal phenotype or HNF1β- nephropathy appeared to be extremely heterogenic: multicystic renal dysplasia, renal hypoplasia, unilateral renal agenesis, horseshoe kidney, atypical familial juvenile hyperuricemic nephropathy, urinary tract malformations and tubular dysfunction. Extrarenal phenotype of HNF1β-associated disease could be maturity-onset diabetes of the young (MODY), pancreatic atrophy and exocrine pancreatic dysfunction, elevated liver enzymes, neonatal cholestasis, congenital abnormalities of the genital tract, hyperparathyroidism, neurological symptoms. The multisystem phenotype makes clinical verification of the diagnosis extremely difficult. In this article, we present a clinical observation of a child with HNF1β – associated disease. The first clinical presentation of HNF1β-associated disease was ultrasound changes in the kidneys (hyperechogenic kidneys?), which were detected by prenatal ultrasonography in pregnancy. Renal ultrasound revealed polycystic kidney disease in the first days of life and bilateral medullary nephrocalcinosis by the age of three. The clinical examination showed a reduced renal function and developed Fanconi syndrome (glycosuria, low molecular proteinuria, hypophosphatemia, aminoaciduria, hyperuricosuria) in the first year of life. Also the child had a non-constant asymptomatic elevation of liver enzymes, hyperparathyroidism, osteoporosis. The diagnosis was confirmed by the results of next generation sequencing which revealed novel heterozygous mutation in exon 4 of the HNF1b gene (chr17: 36091813C>T), p.Cys273Tyr (c.818G>A). The identified mutation was validated by Sanger sequencing. Validation by Sanger sequencing did not reveal a chr17: 36091813C>T mutation in parents, which suggested the appearance of a mutation in the child de novo.

scholarly journals L2HGDH Missense Variant in a Cat with L-2-Hydroxyglutaric Aciduria

Genes ◽  
2021 ◽  
Vol 12 (5) ◽  
pp. 682
Author(s):  
Matthias Christen ◽  
Nils Janzen ◽  
Anne Fraser ◽  
Adrian C. Sewell ◽  
Vidhya Jagannathan ◽  
...  
Keyword(s):  
Current Knowledge ◽  
Genetic Defect ◽  
Clinical Signs ◽  
Missense Variant ◽  
Microcytic Anemia ◽  
Abnormal Behavior ◽  
Functional Candidate Gene ◽  
History Of ◽  
The Brain ◽  
Hydroxyglutaric Acid

A 7-month-old, spayed female, domestic longhair cat with L-2-hydroxyglutaric aciduria (L-2-HGA) was investigated. The aim of this study was to investigate the clinical signs, metabolic changes and underlying genetic defect. The owner of the cat reported a 4-month history of multiple paroxysmal seizure-like episodes, characterized by running around the house, often in circles, with abnormal behavior, bumping into obstacles, salivating and often urinating. The episodes were followed by a period of disorientation and inappetence. Neurological examination revealed an absent bilateral menace response. Routine blood work revealed mild microcytic anemia but biochemistry, ammonia, lactate and pre- and post-prandial bile acids were unremarkable. MRI of the brain identified multifocal, bilaterally symmetrical and T2-weighted hyperintensities within the prosencephalon, mesencephalon and metencephalon, primarily affecting the grey matter. Urinary organic acids identified highly increased levels of L-2-hydroxyglutaric acid. The cat was treated with the anticonvulsants levetiracetam and phenobarbitone and has been seizure-free for 16 months. We sequenced the genome of the affected cat and compared the data to 48 control genomes. L2HGDH, coding for L-2-hydroxyglutarate dehydrogenase, was investigated as the top functional candidate gene. This search revealed a single private protein-changing variant in the affected cat. The identified homozygous variant, XM_023255678.1:c.1301A>G, is predicted to result in an amino acid change in the L2HGDH protein, XP_023111446.1:p.His434Arg. The available clinical and biochemical data together with current knowledge about L2HGDH variants and their functional impact in humans and dogs allow us to classify the p.His434Arg variant as a causative variant for the observed neurological signs in this cat.

scholarly journals Cleft lip: The historical perspective

2009 ◽  
Vol 42 (S 01) ◽  
pp. S4-S8
Author(s):  
S. Bhattacharya ◽  
V. Khanna ◽  
R. Kohli
Keyword(s):  
19Th Century ◽  
Historical Perspective ◽  
Cleft Lip ◽  
Wedge Resection ◽  
Surgical Correction ◽  
Bilateral Cleft Lip ◽  
History Of ◽  
Evil Spirits ◽  
The 19Th Century ◽  
Two Sides

ABSTRACTThe earliest documented history of cleft lip is based on a combination of religion, superstition, invention and charlatanism. While Greeks ignored their existence, Spartans and Romans would kill these children as they were considered to harbour evil spirits. When saner senses prevailed Fabricius ab Aquapendente (1537–1619) was the first to suggest the embryological basis of these clefts. The knowledge of cleft lip and the surgical correction received a big boost during the period between the Renaissance and the 19th century with the publication of Pierre Franco's Petit Traité and Traité des Hernies in which he described the condition as “lièvre fendu de nativitè” (cleft lip present from birth). The first documented Cleft lip surgery is from China in 390 BC in an 18 year old would be soldier, Wey Young-Chi. Albucasis of Arabia and his fellow surgeons used the cautery instead of the scalpel and Yperman in 1854 recommended scarifying the margins with a scalpel before suturing them with a triangular needle dipped in wax. The repair was reinforced by passing a long needle through the two sides of the lip and fixing the shaft of the needle with a figure-of-eight thread over the lip. Germanicus Mirault can be credited to be the originator of the triangular flap which was later modified by C.W. Tennison in 1952 and Peter Randall in 1959. In the late 50s, Ralph Millard gave us his legendary ‘cut as you go’ technique. The protruding premaxilla of a bilateral cleft lip too has seen many changes throughout the ages OE from being discarded totally to being pushed back by wedge resection of vomer to finally being left to the orthodontists.

METABOLIC AND ORTHOPEDIC ASPECT OF X-LINKED VITAMIN D-RESISTANT HYPOPHOSPHATEMIC RICKETS

2021 ◽  
pp. 42-43
Author(s):  
Rahul Kumar ◽  
Rajni Kumari ◽  
Shailesh Kumar ◽  
Santosh Kumar
Keyword(s):  
Vitamin D ◽  
Surgical Correction ◽  
Lower Limbs ◽  
Hypophosphatemic Rickets ◽  
Bone Lengthening ◽  
Normal Range ◽  
Bone Deformity ◽  
Bone Maturation ◽  
Leg Axis

INTRODUCTION: - The X-linked vitamin D-resistant hypophosphatemic rickets (VDXLR) is a metabolic disorder. Medication treatment consists of oral phosphate substitution and supplementation of active vitamin D compounds. Our study aimed to review our patients with VDXLR, focusing on those undergoing surgery, mainly lengthening procedures. The main parameters of interest were growth, height, the axis of the lower limbs, pain, and degenerative arthropathy. METHODS: - Twelve patients with VDXLR were followed at our institution. Eight patients underwent surgical correction, and three of them in combination with bone lengthening. The corrections were executed at the end of growth in the patients. Clinical end points were height, leg axis, and pain. RESULTS: - Single bilateral surgical correction was performed in six patients; one patient had three and ve corrections. Bone lengthening was performed in three patients. At the last follow-up, the height of seven operated patients was within normal range. In addition, the leg axis was normalized in six patients with mild genua vara in two. Bone healing was excellent, and no surgical complications. There was no one radiological evidence of degenerative arthropathy. CONCLUSIONS: - In case of bone deformity, surgery can safely be performed, independent of age or bone maturation. All patients were happy with the outcomes of axial corrective surgery and bone lengthening, and in the majority. Only one corrective intervention was needed.

scholarly journals Periprosthetic stress fracture around a well-fixed type 2B short uncemented stem

SICOT-J ◽  
2018 ◽  
Vol 4 ◽  
pp. 33 ◽  
Author(s):  
Pablo Ariel Slullitel ◽  
Jose Ignacio Oñativia ◽  
Lionel Llano ◽  
Fernando Comba ◽  
Gerardo Zanotti ◽  
...  
Keyword(s):  
Stress Fracture ◽  
Bone Biopsy ◽  
Weight Bearing ◽  
Thigh Pain ◽  
History Of ◽  
Fixed Type ◽  
Uncommon Case ◽  
Short Stems ◽  
Peculiar Case

Despite the theoretical advantages of uncemented short stems, postoperative thigh pain is still matter of concern and can be attributed to different causes. We report a peculiar case of a stress fracture around a short cementless stem with cervico-metaphyseal fixation in an otherwise healthy patient. We implanted a MiniHipTM stem in a 43 year-old male professional golf player for the treatment of primary osteoarthritis using a ceramic on ceramic bearing. Against medical advice, the patient started to play soccer at the 4th postoperative month and was completely asymptomatic to that extent; but at 8 months follow-up and without a history of trauma he started complaining about progressive hip pain. After ruling out infection and loosening, histological analysis from a bone biopsy confirmed the diagnosis of stress fracture. Although revision surgery was initially scheduled, pain started to decrease gradually with protected weight-bearing (crutches) and disappeared around the first postoperative year, remaining the patient asymptomatic at 2 and half years of follow-up, with radiographs depicting a healed fracture with a hypertrophic callus. We encourage surgeons to be aware of the existence of periprosthetic stress fractures as a source of thigh pain (sometimes intractable), and despite being infrequent, they should always be contemplated, providing that these cases can be managed conservatively with rest and limited weight-bearing. After this uncommon case, we suggest to align the stem in order to equally distribute loads onto the medial calcar and the lateral femoral cortical.

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